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Mendeliome v0.2552 ZP2 Zornitza Stark Classified gene: ZP2 as Green List (high evidence)
Mendeliome v0.2552 ZP2 Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence).
Mendeliome v0.2551 ZP2 Zornitza Stark gene: ZP2 was added
gene: ZP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZP2 were set to 30810869; 29895852
Phenotypes for gene: ZP2 were set to Female infertility
Review for gene: ZP2 was set to GREEN
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida.
Sources: Literature
Mendeliome v0.2550 RSRC1 Zornitza Stark edited their review of gene: RSRC1: Added comment: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Intellectual disability syndromic and non-syndromic v0.2579 RSRC1 Zornitza Stark Classified gene: RSRC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2579 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2578 RSRC1 Zornitza Stark edited their review of gene: RSRC1: Added comment: 2020: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Marked gene: GAD1 as ready
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Mendeliome v0.2550 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Mendeliome v0.2550 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.677 GAD1 Zornitza Stark gene: GAD1 was added
gene: GAD1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAD1 were set to 32282878
Phenotypes for gene: GAD1 were set to Developmental and epileptic encephalopathy
Review for gene: GAD1 was set to GREEN
Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.
Sources: Literature
Mendeliome v0.2549 GAD1 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.
Mendeliome v0.2549 GAD1 Zornitza Stark edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed rating: GREEN; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy
Intellectual disability syndromic and non-syndromic v0.2578 GAD1 Zornitza Stark Publications for gene: GAD1 were set to 15571623
Intellectual disability syndromic and non-syndromic v0.2577 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513 to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy
Intellectual disability syndromic and non-syndromic v0.2576 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2576 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.675 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2574 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Congenital Disorders of Glycosylation v0.43 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Mendeliome v0.2549 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Mendeliome v0.2549 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Mendeliome v0.2548 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Early-onset Dementia v0.48 CYLD Zornitza Stark Marked gene: CYLD as ready
Early-onset Dementia v0.48 CYLD Zornitza Stark Gene: cyld has been classified as Red List (Low Evidence).
Early-onset Dementia v0.48 CYLD Zornitza Stark gene: CYLD was added
gene: CYLD was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYLD were set to 32185393
Phenotypes for gene: CYLD were set to Frontotemporal dementia; Amyotrophic lateral sclerosis
Review for gene: CYLD was set to RED
Added comment: Recent report of a missense variant segregating in 1 family with frontotemporal dementia and amyotrophic lateral sclerosis. Functional studies showed that the variant resulted in a gain of ubiquitinase function, opposite from the mechanism causing the well-documented cutaneous phenotypes
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
Microcephaly v0.118 C7orf43 Zornitza Stark Marked gene: C7orf43 as ready
Microcephaly v0.118 C7orf43 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: MAP11
Microcephaly v0.118 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.118 C7orf43 Zornitza Stark Classified gene: C7orf43 as Amber List (moderate evidence)
Microcephaly v0.118 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2547 C7orf43 Zornitza Stark Marked gene: C7orf43 as ready
Mendeliome v0.2547 C7orf43 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: MAP11
Mendeliome v0.2547 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.117 C7orf43 Zornitza Stark gene: C7orf43 was added
gene: C7orf43 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C7orf43 were set to 30715179
Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351
Review for gene: C7orf43 was set to AMBER
Added comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.
Sources: Literature
Mendeliome v0.2547 C7orf43 Zornitza Stark Classified gene: C7orf43 as Amber List (moderate evidence)
Mendeliome v0.2547 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2546 C7orf43 Zornitza Stark gene: C7orf43 was added
gene: C7orf43 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C7orf43 were set to 30715179
Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351
Review for gene: C7orf43 was set to AMBER
Added comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2572 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Intellectual disability syndromic and non-syndromic v0.2571 PLPBP Zornitza Stark Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2545 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from Epilepsy, early-onset, vitamin B6-dependent, 617290 to Epilepsy, early-onset, vitamin B6-dependent, MIM#617290
Mendeliome v0.2544 PLPBP Zornitza Stark Publications for gene: PLPBP were set to 29689137; 27912044
Mendeliome v0.2543 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2570 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.674 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Genetic Epilepsy v0.674 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.674 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
Genetic Epilepsy v0.673 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Genetic Epilepsy v0.672 PLPBP Zornitza Stark Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.671 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.671 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Genetic Epilepsy v0.671 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.671 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Genetic Epilepsy v0.670 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Genetic Epilepsy v0.669 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Mendeliome v0.2543 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Mendeliome v0.2543 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Mendeliome v0.2543 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Mendeliome v0.2542 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Mendeliome v0.2541 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Genetic Epilepsy v0.668 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2540 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.668 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.667 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2539 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Intellectual disability syndromic and non-syndromic v0.2569 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Intellectual disability syndromic and non-syndromic v0.2568 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2567 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2566 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.114 NAXD Zornitza Stark Marked gene: NAXD as ready
Regression v0.114 NAXD Zornitza Stark Gene: naxd has been classified as Green List (High Evidence).
Regression v0.114 NAXD Zornitza Stark Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Regression v0.113 NAXD Zornitza Stark Publications for gene: NAXD were set to
Regression v0.112 NAXD Zornitza Stark Mode of inheritance for gene: NAXD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.111 NAXD Zornitza Stark reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.111 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Regression v0.111 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Regression v0.111 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Regression v0.110 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Intellectual disability syndromic and non-syndromic v0.2565 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Regression v0.109 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2564 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.108 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Regression v0.108 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2563 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2563 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2562 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.107 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.127 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Callosome v0.127 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Callosome v0.127 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Callosome v0.126 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Callosome v0.125 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.124 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Callosome v0.124 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Callosome v0.123 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.116 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Microcephaly v0.116 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Microcephaly v0.116 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Microcephaly v0.115 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Microcephaly v0.114 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.113 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Microcephaly v0.113 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Microcephaly v0.112 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Cerebellar and Pontocerebellar Hypoplasia v0.36 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.35 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.34 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.34 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.33 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2539 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Mendeliome v0.2539 TSEN34 Zornitza Stark Added comment: Comment when marking as ready: Reviewed ClinVar: all variants submitted are VOUS or LB, except for one LP, but no further details provided.
Mendeliome v0.2539 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Mendeliome v0.2539 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Mendeliome v0.2538 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2537 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Mendeliome v0.2536 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Mendeliome v0.2536 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient evidence to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.
Mendeliome v0.2535 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected siblings from a consanguineous family (two arms). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual was tested with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: None
Mendeliome v0.2535 TSEN34 Zornitza Stark Deleted their review
Mendeliome v0.2535 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Mendeliome v0.2535 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Mendeliome v0.2535 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A 277470; Pontocerebellar hypoplasia type 4 225753; Ataxia
Mendeliome v0.2534 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Mendeliome v0.2533 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2532 TSEN54 Zornitza Stark reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2A 277470, Pontocerebellar hypoplasia type 4 225753, Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2532 TSEN54 Zornitza Stark Deleted their review
Mendeliome v0.2532 TSEN54 Zornitza Stark Deleted their comment
Mendeliome v0.2532 Zornitza Stark removed gene:FUS from the panel
Mendeliome v0.2531 Zornitza Stark removed gene:C9orf72 from the panel
Mendeliome v0.2530 TMPRSS9 Zornitza Stark Marked gene: TMPRSS9 as ready
Mendeliome v0.2530 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Mendeliome v0.2530 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Mendeliome v0.2530 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.667 GABRB2 Zornitza Stark Marked gene: GABRB2 as ready
Genetic Epilepsy v0.667 GABRB2 Zornitza Stark Gene: gabrb2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.667 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Genetic Epilepsy v0.666 GABRB2 Zornitza Stark Publications for gene: GABRB2 were set to
Genetic Epilepsy v0.665 GABRB2 Zornitza Stark Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.664 GABRB2 Zornitza Stark reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27789573, 29100083; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2530 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Mendeliome v0.2529 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Mendeliome v0.2528 GABRB2 Zornitza Stark Mode of pathogenicity for gene: GABRB2 was changed from to Other
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Mendeliome v0.2527 GABRB2 Zornitza Stark Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Lissencephaly and Band Heterotopia v0.28 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Lissencephaly and Band Heterotopia v0.27 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.26 NDE1 Zornitza Stark reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30637988; Phenotypes: Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.33 ASTN1 Lauren Akesson reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 29706646; Phenotypes: Polymicrogyria, hypoplastic corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2526 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Mendeliome v0.2526 NDE1 Zornitza Stark Added comment: Comment when marking as ready: The two OMIM phenotypes likely represent a spectrum of brain abnormalities associated with this gene.
Mendeliome v0.2526 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Mendeliome v0.2526 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Mendeliome v0.2525 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Mendeliome v0.2524 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2523 CDC45 Zornitza Stark Marked gene: CDC45 as ready
Mendeliome v0.2523 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Mendeliome v0.2523 CDC45 Zornitza Stark Phenotypes for gene: CDC45 were changed from to Meier-Gorlin syndrome 7, MIM 617063
Mendeliome v0.2522 CDC45 Zornitza Stark Publications for gene: CDC45 were set to
Mendeliome v0.2521 CDC45 Zornitza Stark Mode of inheritance for gene: CDC45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2520 CPSF1 Zornitza Stark Phenotypes for gene: CPSF1 were changed from Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia to Myopia 27, 618827; high myopia; early-onset high myopia
Mendeliome v0.2519 CPSF1 Zornitza Stark Marked gene: CPSF1 as ready
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Mendeliome v0.2519 CPSF1 Zornitza Stark Classified gene: CPSF1 as Green List (high evidence)
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Marked gene: ADAMTS19 as ready
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Classified gene: ADAMTS19 as Amber List (moderate evidence)
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.28 ADAMTS19 Zornitza Stark gene: ADAMTS19 was added
gene: ADAMTS19 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321
Phenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease
Review for gene: ADAMTS19 was set to AMBER
Added comment: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2562 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 31388190
Intellectual disability syndromic and non-syndromic v0.2560 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Intellectual disability syndromic and non-syndromic v0.2559 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2518 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Mendeliome v0.2518 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2558 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2518 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159
Mendeliome v0.2517 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Mendeliome v0.2516 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation 608354 to Capillary malformation-arteriovenous malformation, MIM# 608354
Vascular Malformations_Germline v0.82 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Vascular Malformations_Germline v0.81 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2515 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1, MIM#608354
Mendeliome v0.2514 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Mendeliome v0.2513 RASA1 Zornitza Stark Mode of inheritance for gene: RASA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2512 CFAP69 Zornitza Stark Marked gene: CFAP69 as ready
Mendeliome v0.2512 CFAP69 Zornitza Stark Gene: cfap69 has been classified as Green List (High Evidence).
Mendeliome v0.2512 CFAP69 Zornitza Stark Phenotypes for gene: CFAP69 were changed from to Asthenoteratospermia (Impaired sperm motility; severe flagellar abnormalities (short, coiled, absent or irregular calibre))
Mendeliome v0.2511 CFAP69 Zornitza Stark Publications for gene: CFAP69 were set to
Mendeliome v0.2510 CFAP69 Zornitza Stark Mode of inheritance for gene: CFAP69 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Macular Dystrophy/Stargardt Disease v0.8 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.19 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Retinitis pigmentosa v0.19 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.19 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Retinitis pigmentosa v0.18 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Retinitis pigmentosa v0.18 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2509 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Mendeliome v0.2509 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Mendeliome v0.2509 ABCA4 Zornitza Stark Phenotypes for gene: ABCA4 were changed from to Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200
Mendeliome v0.2508 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Mendeliome v0.2507 ABCA4 Zornitza Stark Mode of inheritance for gene: ABCA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2506 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease
Intellectual disability syndromic and non-syndromic v0.2557 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Intellectual disability syndromic and non-syndromic v0.2556 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2555 TLK2 Zornitza Stark reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2506 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Mendeliome v0.2506 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Mendeliome v0.2506 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease
Mendeliome v0.2505 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Mendeliome v0.2504 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.65 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.65 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.65 DYRK1A Zornitza Stark Classified gene: DYRK1A as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.65 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.64 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYRK1A were set to 25707398; 31263215
Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7 (MIM#614104)
Review for gene: DYRK1A was set to GREEN
Added comment: Review of 15 patients with pathogenic DYRK1A variants revealed 11 of whom presented with CAKUT/genital defects. Studies in Xenopus embryos supported findings (Blackburn 2019; PMID: 31263215)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)
Intellectual disability syndromic and non-syndromic v0.2554 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Intellectual disability syndromic and non-syndromic v0.2553 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2552 DYRK1A Zornitza Stark Deleted their review
Intellectual disability syndromic and non-syndromic v0.2552 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2503 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Mendeliome v0.2503 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Mendeliome v0.2503 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)
Polymicrogyria and Schizencephaly v0.33 AHI1 Lauren Akesson reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15467982; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2502 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Mendeliome v0.2501 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2500 WARS Zornitza Stark Marked gene: WARS as ready
Mendeliome v0.2500 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Mendeliome v0.2500 WARS Zornitza Stark Classified gene: WARS as Green List (high evidence)
Mendeliome v0.2500 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.18 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.2 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.2 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Mendeliome v0.2499 POLR1B Zornitza Stark Phenotypes for gene: POLR1B were changed from Treacher-Collins syndrome to Treacher-Collins syndrome type 4
Mendeliome v0.2498 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Mendeliome v0.2498 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mendeliome v0.2498 POLR1B Zornitza Stark Phenotypes for gene: POLR1B were changed from bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations to Treacher-Collins syndrome
Mendeliome v0.2497 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Mendeliome v0.2497 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mendeliome v0.2496 POLR1B Zornitza Stark changed review comment from: Five unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model. Note four of the families had missense variants affecting same residue, p.Arg1003
Mendeliome v0.2496 POLR1B Zornitza Stark changed review comment from: Six unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model.
Mendeliome v0.2496 POLR1B Zornitza Stark reviewed gene: POLR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31649276; Phenotypes: Treacher-Collins syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2496 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Mendeliome v0.2496 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Mendeliome v0.2496 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia, MIM 269250
Mendeliome v0.2495 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Mendeliome v0.2494 SLC35D1 Zornitza Stark Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2493 C1orf194 Zornitza Stark Marked gene: C1orf194 as ready
Mendeliome v0.2493 C1orf194 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model.
Mendeliome v0.2493 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2493 C1orf194 Zornitza Stark Mode of pathogenicity for gene: C1orf194 was changed from None to Other
Mendeliome v0.2492 C1orf194 Zornitza Stark Classified gene: C1orf194 as Amber List (moderate evidence)
Mendeliome v0.2492 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2491 REC114 Zornitza Stark Marked gene: REC114 as ready
Mendeliome v0.2491 REC114 Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence).
Mendeliome v0.2491 REC114 Zornitza Stark Classified gene: REC114 as Green List (high evidence)
Mendeliome v0.2491 REC114 Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Marked gene: UBA2 as ready
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Classified gene: UBA2 as Amber List (moderate evidence)
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.16 UBA2 Zornitza Stark gene: UBA2 was added
gene: UBA2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267
Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Review for gene: UBA2 was set to AMBER
Added comment: PMID: 31332306 - a single individual with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in individuals with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC.
Sources: Literature
Mendeliome v0.2490 UBA2 Zornitza Stark Marked gene: UBA2 as ready
Mendeliome v0.2490 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2490 UBA2 Zornitza Stark Classified gene: UBA2 as Amber List (moderate evidence)
Mendeliome v0.2490 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.40 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Arthrogryposis v0.40 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Arthrogryposis v0.40 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070
Arthrogryposis v0.39 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Arthrogryposis v0.38 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.37 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332920, 31448844; Phenotypes: Myopathy, tubular aggregate, 1 160565, Stormorken syndrome 185070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10, MIM# 612783
Combined Immunodeficiency v0.157 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Combined Immunodeficiency v0.156 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.155 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 10, MIM# 612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2489 NDE1 Elena Savva reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30637988; Phenotypes: ?Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2489 GABRB2 Elena Savva reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27789573, 29100083; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 2 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2489 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Mendeliome v0.2489 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Mendeliome v0.2489 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10 612783; Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070
Mendeliome v0.2488 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Mendeliome v0.2487 STIM1 Zornitza Stark Mode of pathogenicity for gene: STIM1 was changed from to Other
Mendeliome v0.2486 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782
Combined Immunodeficiency v0.154 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Combined Immunodeficiency v0.153 ORAI1 Zornitza Stark Mode of inheritance for gene: ORAI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.152 ORAI1 Zornitza Stark reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 9, MIM# 612782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2485 MDM2 Belinda Chong reviewed gene: MDM2: Rating: RED; Mode of pathogenicity: None; Publications: 28846075; Phenotypes: ?Lessel-Kubisch syndrome 618681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2485 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Mendeliome v0.2485 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Mendeliome v0.2485 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782; Myopathy, tubular aggregate, 2, MIM# 615883
Mendeliome v0.2484 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Mendeliome v0.2483 ORAI1 Zornitza Stark Mode of pathogenicity for gene: ORAI1 was changed from to Other
Mendeliome v0.2482 ORAI1 Zornitza Stark Mode of inheritance for gene: ORAI1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2481 RTTN Zornitza Stark Marked gene: RTTN as ready
Mendeliome v0.2481 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Mendeliome v0.2481 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Intellectual disability; cerebral polymicrogyria; primary microcephaly; growth defects; congenital anomalies
Mendeliome v0.2480 RTTN Zornitza Stark Publications for gene: RTTN were set to
Mendeliome v0.2479 RTTN Zornitza Stark Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2478 UBAP1 Zornitza Stark Marked gene: UBAP1 as ready
Mendeliome v0.2478 UBAP1 Zornitza Stark Gene: ubap1 has been classified as Green List (High Evidence).
Mendeliome v0.2478 UBAP1 Zornitza Stark Phenotypes for gene: UBAP1 were changed from to Spastic paraplegia 80, autosomal dominant 618418
Mendeliome v0.2477 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to
Mendeliome v0.2476 UBAP1 Zornitza Stark Mode of inheritance for gene: UBAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.34 SLC6A6 Zornitza Stark gene: SLC6A6 was added
gene: SLC6A6 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Mendeliome v0.2475 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Mendeliome v0.2475 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2474 MRPS14 Zornitza Stark Phenotypes for gene: MRPS14 were changed from Combined oxidative phosphorylation deficiency 38, MIM# 618378 to Combined oxidative phosphorylation deficiency 38, MIM# 618378; perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability
Autism v0.86 TMPRSS9 Zornitza Stark Marked gene: TMPRSS9 as ready
Autism v0.86 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Autism v0.86 TMPRSS9 Zornitza Stark gene: TMPRSS9 was added
gene: TMPRSS9 was added to Autism. Sources: Literature
Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS9 were set to 31943016
Phenotypes for gene: TMPRSS9 were set to autism spectrum disorder
Review for gene: TMPRSS9 was set to RED
Added comment: Single individual reported.
Sources: Literature
Optic Atrophy v0.102 MCAT Zornitza Stark Marked gene: MCAT as ready
Optic Atrophy v0.102 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Mendeliome v0.2473 TMPRSS9 Zornitza Stark Classified gene: TMPRSS9 as Red List (low evidence)
Mendeliome v0.2473 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Mendeliome v0.2472 MCAT Zornitza Stark Marked gene: MCAT as ready
Mendeliome v0.2472 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Optic Atrophy v0.102 MCAT Zornitza Stark gene: MCAT was added
gene: MCAT was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCAT were set to 31915829
Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy
Review for gene: MCAT was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.2472 MCAT Zornitza Stark Classified gene: MCAT as Red List (low evidence)
Mendeliome v0.2472 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.664 SCN8A Zornitza Stark Publications for gene: SCN8A were set to 31625145; 30842224
Genetic Epilepsy v0.663 SCN8A Zornitza Stark Publications for gene: SCN8A were set to 31625145
Mendeliome v0.2471 ABCC1 Zornitza Stark Marked gene: ABCC1 as ready
Mendeliome v0.2471 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2471 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Mendeliome v0.2471 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2470 ABCC1 Zornitza Stark gene: ABCC1 was added
gene: ABCC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCC1 were set to 31273342
Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss
Review for gene: ABCC1 was set to AMBER
Added comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected) PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD. Amber rating in light of gnomad frequency of one of the reported variants.
Sources: Literature
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Marked gene: ABCC1 as ready
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Added comment: Comment when marking as ready: Keep as Amber for now in light of gnomad data about one of the variants.
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.340 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.340 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Intellectual disability syndromic and non-syndromic v0.2551 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Intellectual disability syndromic and non-syndromic v0.2550 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2549 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.662 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Genetic Epilepsy v0.662 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.662 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Genetic Epilepsy v0.661 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Genetic Epilepsy v0.660 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.659 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2469 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Mendeliome v0.2469 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Mendeliome v0.2469 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Mendeliome v0.2468 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Mendeliome v0.2467 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Marked gene: SIGMAR1 as ready
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Gene: sigmar1 has been classified as Green List (High Evidence).
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Phenotypes for gene: SIGMAR1 were changed from to Amyotrophic lateral sclerosis 16, juvenile 614373; ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726; distal hereditary motor neuropathy of Jerash type (HMNJ)
Mendeliome v0.2465 SIGMAR1 Zornitza Stark Publications for gene: SIGMAR1 were set to
Mendeliome v0.2464 SIGMAR1 Zornitza Stark Mode of inheritance for gene: SIGMAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.5 ATOH7 Zornitza Stark Marked gene: ATOH7 as ready
Vitreoretinopathy v0.5 ATOH7 Zornitza Stark Gene: atoh7 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.5 ATOH7 Zornitza Stark Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment
Vitreoretinopathy v0.4 ATOH7 Zornitza Stark Publications for gene: ATOH7 were set to
Vitreoretinopathy v0.3 ATOH7 Zornitza Stark Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.2 ATOH7 Zornitza Stark reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900, microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2463 ATOH7 Zornitza Stark Marked gene: ATOH7 as ready
Mendeliome v0.2463 ATOH7 Zornitza Stark Gene: atoh7 has been classified as Green List (High Evidence).
Mendeliome v0.2463 ATOH7 Zornitza Stark Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment
Mendeliome v0.2462 ATOH7 Zornitza Stark Publications for gene: ATOH7 were set to
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Marked gene: GNAI2 as ready
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2461 ATOH7 Zornitza Stark Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2460 GNAI2 Zornitza Stark Classified gene: GNAI2 as Amber List (moderate evidence)
Mendeliome v0.2460 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2459 GNAI2 Zornitza Stark reviewed gene: GNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27787898; Phenotypes: Syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Classified gene: GNAI2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark changed review comment from: Single individual with de novo variant reported.
Sources: Literature; to: Two individuals reported, some functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark edited their review of gene: GNAI2: Changed rating: AMBER; Changed publications: 31036916, 27787898
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark gene: GNAI2 was added
gene: GNAI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI2 were set to 31036916
Phenotypes for gene: GNAI2 were set to Syndromic intellectual disability
Review for gene: GNAI2 was set to RED
Added comment: Single individual with de novo variant reported.
Sources: Literature
Mendeliome v0.2459 GNAI2 Zornitza Stark Marked gene: GNAI2 as ready
Mendeliome v0.2459 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence).
Mendeliome v0.2459 GNAI2 Zornitza Stark Classified gene: GNAI2 as Red List (low evidence)
Mendeliome v0.2459 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence).
Mendeliome v0.2458 KLHL24 Zornitza Stark Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Hypertrophic cardiomyopathy
Mendeliome v0.2457 KLHL24 Zornitza Stark Publications for gene: KLHL24 were set to 29779254; 30120936
Mendeliome v0.2456 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2455 KLHL24 Zornitza Stark reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 30715372; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.23 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.22 KLHL24 Zornitza Stark Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy v0.22 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.21 KLHL24 Zornitza Stark Classified gene: KLHL24 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.21 KLHL24 Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Marked gene: FEM1B as ready
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Classified gene: FEM1B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2546 FEM1B Zornitza Stark gene: FEM1B was added
gene: FEM1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FEM1B were set to 31036916
Phenotypes for gene: FEM1B were set to Syndromic intellectual disability
Review for gene: FEM1B was set to AMBER
Added comment: No OMIM phenotype PMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein. Cannot be certain the DDD and GeneMatcher individuals are unrelated, therefore treat as two reports for now.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark Marked gene: WIPI2 as ready
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Red List (Low Evidence).
Mendeliome v0.2455 FEM1B Zornitza Stark Marked gene: FEM1B as ready
Mendeliome v0.2455 FEM1B Zornitza Stark Added comment: Comment when marking as ready: Agree cannot be confident these represent three unrelated families.
Mendeliome v0.2455 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2455 FEM1B Zornitza Stark Phenotypes for gene: FEM1B were changed from Syndromic global developmental delay to Syndromic intellectual disability
Mendeliome v0.2454 FEM1B Zornitza Stark Classified gene: FEM1B as Amber List (moderate evidence)
Mendeliome v0.2454 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Added comment: Comment when marking as ready: Progressive neurodegenerative disorder rather than true intellectual disability. The first characteristic neurological abnormalities were noted between the ages of 2–8 years. Cardinal features included tremor, dysarthria, swallowing difficulties, ataxia, truncal muscle weakness, strabismus, and decreased visual acuity.
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark gene: WIPI2 was added
gene: WIPI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 30968111
Phenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Review for gene: WIPI2 was set to RED
Added comment: Four homozygous individuals from one consanguineous family with intellectual disability, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.
Sources: Literature
Mendeliome v0.2453 WIPI2 Zornitza Stark Classified gene: WIPI2 as Red List (low evidence)
Mendeliome v0.2453 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.79 SEC31A Zornitza Stark Marked gene: SEC31A as ready
Hereditary Spastic Paraplegia v0.79 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.79 SEC31A Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.79 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.78 SEC31A Zornitza Stark gene: SEC31A was added
gene: SEC31A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Review for gene: SEC31A was set to AMBER
Added comment: Frameshift. c.2776_2777, TA duplication, causing predicted p.A927fs*61 truncation and predicted NMD in 2 affected siblings in consanguineous Bedouin family with severe congenital neurological syndrome with spastic paraplegia, multiple contractures, profound developmental delay and convulsions. Failure to thrive. Lethal by age 4 years. Also had hearing defect, bilateral congenital cataract, horizontal nystagmus, with flat retina and optic atrophy. Supporting functional assays from knockout drosophila.
Sources: Literature
Mendeliome v0.2452 SEC31A Zornitza Stark Marked gene: SEC31A as ready
Mendeliome v0.2452 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2452 SEC31A Zornitza Stark Phenotypes for gene: SEC31A were changed from congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Mendeliome v0.2451 SEC31A Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence)
Mendeliome v0.2451 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Optic Atrophy v0.100 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood onset degeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Ataxia v0.211 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Ataxia v0.211 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Ataxia v0.211 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Ataxia v0.211 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Ataxia v0.210 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Regression v0.107 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Regression v0.107 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Regression v0.107 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Regression v0.107 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Regression v0.106 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Mendeliome v0.2450 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Mendeliome v0.2450 SLC44A1 Zornitza Stark Added comment: Comment when marking as ready: Childhood onset neurodegeneration
Mendeliome v0.2450 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Mendeliome v0.2450 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Mendeliome v0.2450 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Mendeliome v0.2449 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Mendeliome v0.2449 SMCHD1 Zornitza Stark Added comment: Comment when marking as ready: Note association with FSHD2 is postulated to have digenic inheritance, caused by the combination of a heterozygous mutation in the SMCHD1 gene (614982) on chromosome 18p and presence of a haplotype on chromosome 4 that is permissive for DUX4 (606009) expression.
Mendeliome v0.2449 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Mendeliome v0.2449 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, MIM 603457; Fascioscapulohumeral muscular dystrophy 2, digenic
Mendeliome v0.2448 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to
Mendeliome v0.2447 SMCHD1 Zornitza Stark Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672
Angelman Rett like syndromes v0.7 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Angelman Rett like syndromes v0.6 CDKL5 Zornitza Stark Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.5 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27080038, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2446 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Mendeliome v0.2446 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Mendeliome v0.2446 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672
Mendeliome v0.2445 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Mendeliome v0.2444 CDKL5 Zornitza Stark Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral Palsy v0.16 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Cerebral Palsy v0.16 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.16 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Cerebral Palsy v0.16 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2443 AEBP1 Zornitza Stark Marked gene: AEBP1 as ready
Mendeliome v0.2443 AEBP1 Zornitza Stark Gene: aebp1 has been classified as Green List (High Evidence).
Mendeliome v0.2443 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Mendeliome v0.2442 AEBP1 Zornitza Stark Publications for gene: AEBP1 were set to
Mendeliome v0.2441 AEBP1 Zornitza Stark Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 AEBP1 Zornitza Stark reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606302, 30668708, 30548383, 30759870; Phenotypes: Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Marked gene: AEBP1 as ready
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Gene: aebp1 has been classified as Green List (High Evidence).
Mendeliome v0.2440 SLC6A6 Chern Lim gene: SLC6A6 was added
gene: SLC6A6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486)

One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Mendeliome v0.2440 MRPS14 Dean Phelan reviewed gene: MRPS14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30358850; Phenotypes: perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 TMPRSS9 Chern Lim gene: TMPRSS9 was added
gene: TMPRSS9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS9 were set to 31943016
Phenotypes for gene: TMPRSS9 were set to autism spectrum disorder
Review for gene: TMPRSS9 was set to RED
Added comment: Association with Mendelian disease not established.

Is a candidate gene for autism spectrum disorder: single patient, compound heterozygous nonsense variants. Functional studies showed Tmprss9 gene is expressed in mouse brain, knockout mice had decreased social interest and social recognition. (PMID: 31943016)
Sources: Literature
Mendeliome v0.2440 MCAT Chern Lim gene: MCAT was added
gene: MCAT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCAT were set to 31915829
Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy
Review for gene: MCAT was set to RED
Added comment: One family reported - a consanguineous family, two homozygous missense variants in both affected siblings. Functional studies showed both missense together have synergic impact on MCAT protein misfolding; p.(L81R) had more impact on MCAT protein expression reduction than did the p.(R212W); some study in conditional knockout mice. (PMID:31915829)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2544 MAB21L1 Kristin Rigbye edited their review of gene: MAB21L1: Changed rating: GREEN
Mendeliome v0.2440 CAP2 Melanie Marty Deleted their comment
Mendeliome v0.2440 CAP2 Melanie Marty edited their review of gene: CAP2: Added comment: 2 patients with dilated cardiomyopathy from 1 consanguineous family. The splice variant identified in this family was proven to cause exon skipping and functional studies showed protein level was reduced. A Cap2 knockout mouse model correlated with the clinical phenotype of DCM and cardiac conduction disease, but not the other effects on growth, viability, wound healing and eye development.; Changed rating: RED
Mendeliome v0.2440 WIPI2 Melanie Marty Deleted their comment
Mendeliome v0.2440 WIPI2 Melanie Marty edited their review of gene: WIPI2: Added comment: Four homozygous patients from one consanguineous family with intellectual developmental, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.; Changed rating: RED; Changed phenotypes: Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Mendeliome v0.2440 ATOH7 Paul De Fazio changed review comment from: Segregates with disease in 3 consanguineous families from Pakistan/Turkey and one non-consanguineous family of Swiss origin. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation.; to: Segregates with disease in 3 consanguineous families from Pakistan/Turkey with global eye abnormalities, and one non-consanguineous family of Swiss origin with optic nerve hypoplasia. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation (in mice).
Mendeliome v0.2440 GFAP Paul De Fazio changed review comment from: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2440 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2440 UBAP1 Ain Roesley reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31203368; Phenotypes: hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000 to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Mendeliome v0.2440 RTTN Ee Ming Wong reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067; Phenotypes: Intellectual disability, cerebral polymicrogyria, primary microcephaly, growth defects, congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 PKDCC Paul De Fazio changed review comment from: 2 ("apparently") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature; to: 2 apparently unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature
Aortopathy_Connective Tissue Disorders v0.20 AEBP1 Zornitza Stark Publications for gene: AEBP1 were set to
Mendeliome v0.2440 ORAI1 Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
Mendeliome v0.2440 CDKL5 Teresa Zhao reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Aortopathy_Connective Tissue Disorders v0.19 AEBP1 Zornitza Stark Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.15 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Mendeliome v0.2440 STIM1 Natalie Tan reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Myopathy, immunodeficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dystonia and Chorea v0.64 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Dystonia and Chorea v0.64 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.64 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Dystonia and Chorea v0.64 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.63 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 UBA2 Elena Savva gene: UBA2 was added
gene: UBA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBA2 were set to PMID: 31332306; 31587267
Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Penetrance for gene: UBA2 were set to unknown
Review for gene: UBA2 was set to AMBER
Added comment: No OMIM phenotype

PMID: 31332306 - a single patient with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in patients with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance

PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2543 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Mendeliome v0.2440 ORAI1 Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
Mendeliome v0.2440 ORAI1 Natalie Tan reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Progressive myopathy, contractures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2440 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Mendeliome v0.2440 GSX2 Zornitza Stark Added comment: Comment when marking as ready: Intellectual disability, spastic tetraparesis, dystonia
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 REC114 Michelle Torres gene: REC114 was added
gene: REC114 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: REC114 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC114 were set to 30388401; 31704776
Phenotypes for gene: REC114 were set to Female infertility
Review for gene: REC114 was set to GREEN
Added comment: Three variants reported are either within or flanking exon 4.
- One hom patient (splice) had a miscarriage, 2 spontaneous complete hydatidiform moles, and 1 complete hydatidiform mole following intrauterine sperm injection (PMID: 30388401)
- Two hom unrelated patients from consanguineous families with abnormal pronuclear formation during fertilisation and subsequent early embrionic arrest resulting in female infertility. Both variants (1 missense and 1 splice) were shown to result in LoF (PMID: 31704776)
Sources: Literature
Mendeliome v0.2440 AGTPBP1 Kristin Rigbye reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30420557; Phenotypes: Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy, Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2439 C1orf194 Ain Roesley gene: C1orf194 was added
gene: C1orf194 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1orf194 were set to PMID: 31199454
Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth
Review for gene: C1orf194 was set to AMBER
Added comment: PMID: 31199454; 2 missense variants in 2 large families segregating in an AD pattern. Mouse models for one of the variants (p.(Ile121Asn) led to impairments in moto and neuromuscular functions
Sources: Literature
Mendeliome v0.2439 SLC35D1 Teresa Zhao reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31423530, 19508970; Phenotypes: Schneckenbecken dysplasia, MIM 269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, 616229
Mendeliome v0.2439 POLR1B Paul De Fazio changed review comment from: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature; to: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.9 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.8 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.7 CREB3L1 Zornitza Stark reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2439 POLR1B Paul De Fazio gene: POLR1B was added
gene: POLR1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations
Review for gene: POLR1B was set to AMBER
gene: POLR1B was marked as current diagnostic
Added comment: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature
Mendeliome v0.2439 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Mendeliome v0.2439 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Mendeliome v0.2439 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, MIM#616229
Mendeliome v0.2438 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Mendeliome v0.2437 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2436 WARS Naomi Baker gene: WARS was added
gene: WARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WARS were set to PMID: 28369220; 31321409; 31069783.
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); distal wasting; distal weakness; length-dependent motor axonal degeneration
Review for gene: WARS was set to GREEN
Added comment: 14 patients from five families were reported to have WARS-related neuropathy across three publications. Expression studies of mutant demonstrated decreased protein when compared to wild-type.
Sources: Literature
Mendeliome v0.2436 ACKR3 Zornitza Stark Marked gene: ACKR3 as ready
Mendeliome v0.2436 ACKR3 Zornitza Stark Gene: ackr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2436 ACKR3 Zornitza Stark Phenotypes for gene: ACKR3 were changed from Oculomotor synkinesis to Oculomotor synkinesis; Ptosis
Mendeliome v0.2435 ACKR3 Zornitza Stark Classified gene: ACKR3 as Amber List (moderate evidence)
Mendeliome v0.2435 ACKR3 Zornitza Stark Gene: ackr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2434 CYLD Zornitza Stark Marked gene: CYLD as ready
Mendeliome v0.2434 CYLD Zornitza Stark Gene: cyld has been classified as Green List (High Evidence).
Mendeliome v0.2434 CYLD Zornitza Stark Phenotypes for gene: CYLD were changed from to Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and amyotrophic lateral sclerosis
Mendeliome v0.2433 CYLD Zornitza Stark Publications for gene: CYLD were set to
Mendeliome v0.2432 CYLD Zornitza Stark Mode of inheritance for gene: CYLD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2431 PCDH19 Zornitza Stark Marked gene: PCDH19 as ready
Mendeliome v0.2431 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Mendeliome v0.2431 PCDH19 Zornitza Stark Phenotypes for gene: PCDH19 were changed from to Epileptic encephalopathy, early infantile, 9 300088; PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment
Mendeliome v0.2430 PCDH19 Zornitza Stark Publications for gene: PCDH19 were set to
Mendeliome v0.2429 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.2428 GFAP Zornitza Stark Marked gene: GFAP as ready
Mendeliome v0.2428 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Mendeliome v0.2428 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from to Alexander disease, MIM# 203450
Mendeliome v0.2427 SLC9A7 Dean Phelan reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.2427 GFAP Zornitza Stark Publications for gene: GFAP were set to
Mendeliome v0.2426 GFAP Zornitza Stark Mode of inheritance for gene: GFAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Marked gene: COPA as ready
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Phenotypes for gene: COPA were changed from to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414
Autoinflammatory Disorders v0.66 COPA Zornitza Stark Publications for gene: COPA were set to 31455335; 30804679
Autoinflammatory Disorders v0.65 COPA Zornitza Stark Publications for gene: COPA were set to
Autoinflammatory Disorders v0.64 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.63 COPA Zornitza Stark reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31455335, 30804679; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease, MIM 616414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2425 COPA Zornitza Stark Marked gene: COPA as ready
Mendeliome v0.2425 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Mendeliome v0.2425 COPA Zornitza Stark Phenotypes for gene: COPA were changed from to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414
Mendeliome v0.2424 COPA Zornitza Stark Publications for gene: COPA were set to
Mendeliome v0.2423 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Marked gene: SAMD12 as ready
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Tag deep intronic tag was added to gene: SAMD12.
Mendeliome v0.2422 DYRK1A Crystle Lee reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2422 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.15 LRP6 Elena Savva reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31332306; Phenotypes: {Coronary artery disease, autosomal dominant, 2} 610947, Tooth agenesis, selective, 7 616724, Split-hand/foot malformation; Mode of inheritance: None
Mendeliome v0.2421 PLOD3 Alison Yeung Marked gene: PLOD3 as ready
Mendeliome v0.2421 PLOD3 Alison Yeung Added comment: Comment when marking as ready: >3 unrelated families reported
Mendeliome v0.2421 PLOD3 Alison Yeung Gene: plod3 has been classified as Green List (High Evidence).
Mendeliome v0.2421 TLK2 Teresa Zhao reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Classified gene: SAMD12 as Green List (high evidence)
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Mendeliome v0.2421 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Mendeliome v0.2421 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Mendeliome v0.2421 PLOD3 Alison Yeung Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2421 FOXG1 Zornitza Stark Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454
Mendeliome v0.2420 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to
Mendeliome v0.2419 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.658 SAMD12 Zornitza Stark gene: SAMD12 was added
gene: SAMD12 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SAMD12 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SAMD12 were set to 30194086; 29507423
Phenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1, MIM# 601068
Mode of pathogenicity for gene: SAMD12 was set to Other
Review for gene: SAMD12 was set to GREEN
Added comment: Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains. Note these were identified on long-read sequencing and may not be detectable by all assays.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Marked gene: IGF1R as ready
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
Mendeliome v0.2418 TBX6 Alison Yeung Marked gene: TBX6 as ready
Mendeliome v0.2418 TBX6 Alison Yeung Added comment: Comment when marking as ready: Biallelic variants associated with spondylocostal dysostosis in >3 unrelated individuals
Mouse model recapitulates phenotype
Mendeliome v0.2418 TBX6 Alison Yeung Gene: tbx6 has been classified as Green List (High Evidence).
Mendeliome v0.2418 SAMD12 Zornitza Stark Marked gene: SAMD12 as ready
Mendeliome v0.2418 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Mendeliome v0.2418 SAMD12 Zornitza Stark Tag deep intronic tag was added to gene: SAMD12.
Mendeliome v0.2418 TBX6 Alison Yeung Mode of inheritance for gene: TBX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2418 SAMD12 Zornitza Stark Mode of inheritance for gene: SAMD12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2417 SAMD12 Zornitza Stark Classified gene: SAMD12 as Green List (high evidence)
Mendeliome v0.2417 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Differences of Sex Development v0.21 MYRF Ain Roesley gene: MYRF was added
gene: MYRF was added to Disorders of Sex Differentiation. Sources: Literature
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to PMID: 30985895
Phenotypes for gene: MYRF were set to disorders of sex development
Review for gene: MYRF was set to GREEN
Added comment: PMID: 30985895; 4 unrelated families with de novo variants. 1 family includes monozygotic twins
Sources: Literature
Mendeliome v0.2416 FUS Zornitza Stark commented on gene: FUS
Mendeliome v0.2416 ABCA4 Kristin Rigbye reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2416 CFAP69 Ee Ming Wong reviewed gene: CFAP69: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29606301, 30415212; Phenotypes: Asthenoteratospermia (Impaired sperm motility, severe flagellar abnormalities (short, coiled, absent or irregular calibre)); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209
Ciliary Dyskinesia v0.28 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Intellectual disability syndromic and non-syndromic v0.2541 IGF1R Zornitza Stark Publications for gene: IGF1R were set to 31586944
Intellectual disability syndromic and non-syndromic v0.2541 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2416 UBE3A Alison Yeung Marked gene: UBE3A as ready
Mendeliome v0.2416 UBE3A Alison Yeung Gene: ube3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Marked gene: YARS as ready
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2416 C9orf72 Zornitza Stark commented on gene: C9orf72
Mendeliome v0.2416 RASA1 Chern Lim reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Classified gene: YARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2539 YARS Zornitza Stark gene: YARS was added
gene: YARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS were set to Intellectual disability; deafness; nystagmus; liver dysfunction
Review for gene: YARS was set to GREEN
Added comment: Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features.
Sources: Literature
Mendeliome v0.2416 ADAMTS19 Alison Yeung Marked gene: ADAMTS19 as ready
Mendeliome v0.2416 ADAMTS19 Alison Yeung Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2416 ADAMTS19 Alison Yeung Classified gene: ADAMTS19 as Amber List (moderate evidence)
Mendeliome v0.2416 ADAMTS19 Alison Yeung Added comment: Comment on list classification: Two different homozygous variants in two consanguineous families. Animal model demonstrates cardiac phenotype
Await further reported families
Mendeliome v0.2416 ADAMTS19 Alison Yeung Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2538 DYRK1A Crystle Lee reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2538 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2415 YARS Zornitza Stark Marked gene: YARS as ready
Mendeliome v0.2415 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Mendeliome v0.2415 YARS Zornitza Stark Phenotypes for gene: YARS were changed from to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Bi-allelic variants: ID, deafness, nystagmus
Mendeliome v0.2414 YARS Zornitza Stark Publications for gene: YARS were set to
Mendeliome v0.2413 YARS Zornitza Stark Mode of inheritance for gene: YARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2412 CFAP65 Zornitza Stark Marked gene: CFAP65 as ready
Mendeliome v0.2412 CFAP65 Zornitza Stark Gene: cfap65 has been classified as Green List (High Evidence).
Mendeliome v0.2412 CFAP65 Zornitza Stark Classified gene: CFAP65 as Green List (high evidence)
Mendeliome v0.2412 CFAP65 Zornitza Stark Gene: cfap65 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2537 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2411 CAP2 Alison Yeung Marked gene: CAP2 as ready
Mendeliome v0.2411 CAP2 Alison Yeung Gene: cap2 has been classified as Red List (Low Evidence).
Mendeliome v0.2411 CAP2 Alison Yeung Classified gene: CAP2 as Red List (low evidence)
Mendeliome v0.2411 CAP2 Alison Yeung Added comment: Comment on list classification: Currently only one consanguineous family reported.
Knockout mouse model shows cardiomyopathy but not other clinical features reported in this family
Mendeliome v0.2411 CAP2 Alison Yeung Gene: cap2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2536 IGF1R Zornitza Stark reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944; Phenotypes: Insulin-like growth factor I, resistance to, MIM# 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2410 IGF1R Zornitza Stark Marked gene: IGF1R as ready
Mendeliome v0.2410 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
Mendeliome v0.2410 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450
Mendeliome v0.2409 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Mendeliome v0.2408 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2407 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Mendeliome v0.2407 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Mendeliome v0.2407 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome 606232; Rett syndrome; Rett-like phenotypes
Mendeliome v0.2406 CHD4 Teresa Zhao reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2406 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Mendeliome v0.2405 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2404 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Mendeliome v0.2404 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Mendeliome v0.2404 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Mendeliome v0.2403 SCN1A Zornitza Stark Publications for gene: SCN1A were set to
Mendeliome v0.2402 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2401 ADAMTS19 Crystle Lee edited their review of gene: ADAMTS19: Changed rating: AMBER
Mendeliome v0.2401 CPSF1 Kristin Rigbye changed review comment from: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature; to: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (PMID: 30689892).
Sources: Literature
Mendeliome v0.2401 CPSF1 Kristin Rigbye edited their review of gene: CPSF1: Changed phenotypes: Myopia 27, 618827, high myopia, early-onset high myopia, high myopia
Mendeliome v0.2401 CPSF1 Kristin Rigbye gene: CPSF1 was added
gene: CPSF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CPSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPSF1 were set to 30689892
Phenotypes for gene: CPSF1 were set to Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia
Review for gene: CPSF1 was set to GREEN
Added comment: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature
Mendeliome v0.2401 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Mendeliome v0.2401 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Mendeliome v0.2401 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4 612164; Rett syndrome; Rett-like phenotypes
Mendeliome v0.2400 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Mendeliome v0.2399 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2398 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Mendeliome v0.2398 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Mendeliome v0.2398 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1 309800
Mendeliome v0.2397 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Mendeliome v0.2396 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Differences of Sex Development v0.21 RXFP2 Zornitza Stark Marked gene: RXFP2 as ready
Differences of Sex Development v0.21 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2395 CDC45 Teresa Zhao reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31474763; Phenotypes: Meier-Gorlin syndrome 7, MIM 617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2395 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Mendeliome v0.2395 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Mendeliome v0.2395 SIGMAR1 Michelle Torres changed review comment from: PMID: 31511340:
- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.
- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS); to: PMID: 31511340:
- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.
- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS)
Skeletal Muscle Channelopathies v0.3 ATP2A1 Sebastian Lunke reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32040565; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.657 SCN8A Ain Roesley reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.339 ABCC1 Crystle Lee gene: ABCC1 was added
gene: ABCC1 was added to Deafness. Sources: Expert Review
Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCC1 were set to 31273342
Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss (PMID: 31273342)
Review for gene: ABCC1 was set to GREEN
Added comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected)

PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual
ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD.
Sources: Expert Review
Differences of Sex Development v0.21 RXFP2 Zornitza Stark Phenotypes for gene: RXFP2 were changed from to Cryptorchidism
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Marked gene: PKDCC as ready
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2395 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5 300894; Rett syndrome; Rett-like phenotypes
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark Marked gene: SOD2 as ready
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark Gene: sod2 has been classified as Red List (Low Evidence).
Mendeliome v0.2394 WDR45 Zornitza Stark Publications for gene: WDR45 were set to
Mendeliome v0.2393 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2392 GABRA1 Ain Roesley reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11992121, 21714819, 24623842, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark gene: SOD2 was added
gene: SOD2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SOD2 were set to 31494578
Phenotypes for gene: SOD2 were set to Lethal neonatal dilated cardiomyopathy
Review for gene: SOD2 was set to RED
Added comment: Single patient from a consanguineous family, with functional evidence (reduced total SOD activity in patient cells, lenti-rescue experiment restored mitochondrial SOD (SOD2) activity). (PMID: 31494578)
Sources: Literature
Mendeliome v0.2392 SIGMAR1 Michelle Torres reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31511340; Phenotypes: ?Amyotrophic lateral sclerosis 16, juvenile 614373, ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726, distal hereditary motor neuropathy of Jerash type (HMNJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2392 ATOH7 Paul De Fazio reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2392 GNAI2 Elena Savva gene: GNAI2 was added
gene: GNAI2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAI2 were set to PMID: 31036916
Phenotypes for gene: GNAI2 were set to Pituitary adenoma, ACTH-secreting, somatic; Ventricular tachycardia, idiopathic 192605; Syndromic developmental disorder
Review for gene: GNAI2 was set to AMBER
Added comment: Papers associating this gene to tachycardia are very old (pre 2000, OMIM).

PMID: 31036916 - a single de novo patient with syndromic developmental disorder

Summary: AMBER - one report, may be a coincidental de novo finding
Sources: Literature
Mendeliome v0.2392 SOD2 Zornitza Stark Phenotypes for gene: SOD2 were changed from {Microvascular complications of diabetes 6} 612634 to {Microvascular complications of diabetes 6} 612634; Lethal neonatal dilated cardiomyopathy
Mendeliome v0.2391 SOD2 Zornitza Stark Publications for gene: SOD2 were set to
Mendeliome v0.2390 SOD2 Zornitza Stark Mode of inheritance for gene: SOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.20 KLHL24 Kristin Rigbye gene: KLHL24 was added
gene: KLHL24 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: KLHL24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 27798626; 27889062; 30715372
Phenotypes for gene: KLHL24 were set to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy
Review for gene: KLHL24 was set to GREEN
Added comment: Heterozygous variants in the start codon, resulting in the use of alternate downstream methionine at residue 29, have previously been reported in multiple patients with AD EBS. These variants have been shown to cause a gain of function, resulting in enhanced protein stability and higher abundance (OMIM).

Recent report of recessive KLHL24 variants in 2 unrelated consanguineous families (total of 7 sequenced affected individuals) with HCM (1 nonsense, 1 missense). A knockdown model of klhl24a in zebrafish recapitulated the cardiac phenotype, supporting loss of function as the mechanism in AR HCM (PMID: 30715372).
Sources: Literature
Differences of Sex Development v0.20 RXFP2 Zornitza Stark Publications for gene: RXFP2 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from Barrett esophagus/esophageal adenocarcinoma, 614266 (3) to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
Mendeliome v0.2389 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Mendeliome v0.2389 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.19 RXFP2 Zornitza Stark Mode of inheritance for gene: RXFP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2389 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
Aortopathy_Connective Tissue Disorders v0.18 SMAD2 Zornitza Stark Marked gene: SMAD2 as ready
Aortopathy_Connective Tissue Disorders v0.18 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Mendeliome v0.2388 ASCC1 Zornitza Stark Publications for gene: ASCC1 were set to
Mendeliome v0.2387 ASCC1 Zornitza Stark Mode of inheritance for gene: ASCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2386 FEM1B Elena Savva gene: FEM1B was added
gene: FEM1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1B were set to PMID: 31036916
Phenotypes for gene: FEM1B were set to Syndromic global developmental delay
Review for gene: FEM1B was set to AMBER
Added comment: No OMIM phenotype

PMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein.

Have selected AMBER for now - not sure if GeneMatcher findings can be used as a 3rd case
Sources: Literature
Aortopathy_Connective Tissue Disorders v0.18 SMAD2 Zornitza Stark Classified gene: SMAD2 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.18 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.17 SMAD2 Zornitza Stark gene: SMAD2 was added
gene: SMAD2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 29967133
Phenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease
Review for gene: SMAD2 was set to GREEN
Added comment: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.
Sources: Literature
Mendeliome v0.2386 SMAD2 Zornitza Stark Marked gene: SMAD2 as ready
Mendeliome v0.2386 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Mendeliome v0.2386 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from to Aortic and arterial aneurysmal disease; connective tissue disease
Differences of Sex Development v0.18 RXFP2 Zornitza Stark Classified gene: RXFP2 as Red List (low evidence)
Differences of Sex Development v0.18 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2385 SMAD2 Zornitza Stark Publications for gene: SMAD2 were set to
Aortopathy_Connective Tissue Disorders v0.16 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Aortopathy_Connective Tissue Disorders v0.16 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Mendeliome v0.2384 RXFP2 Alison Yeung Classified gene: RXFP2 as Red List (low evidence)
Mendeliome v0.2384 RXFP2 Alison Yeung Added comment: Comment on list classification: Only single reported family with animal model reported. Both reviews to date are based on same publication. No new publications/reported cases since this one.
Mendeliome v0.2384 RXFP2 Alison Yeung Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2383 SMCHD1 Teresa Zhao changed review comment from: Seven probands with FSHD reported to have LP/P variants, which all predicted to disrupt the structure and conformation of SMCHD1.; to: Seven probands with FSHD reported to have LP/P variants, which all predicted to disrupt the structure and conformation of SMCHD1.

No particular geno-pheno correlation, but location of missense variants within the ATPase domain of MSCHD1 may contribute to the differences in phenotypic outcome (PMID: 31243061)
Aortopathy_Connective Tissue Disorders v0.16 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Mendeliome v0.2383 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2383 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2383 SMAD2 Zornitza Stark Mode of inheritance for gene: SMAD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.17 RXFP2 Zornitza Stark reviewed gene: RXFP2: Rating: RED; Mode of pathogenicity: None; Publications: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.15 SMAD3 Zornitza Stark Publications for gene: SMAD3 were set to
Mendeliome v0.2382 RXFP2 Zornitza Stark Marked gene: RXFP2 as ready
Mendeliome v0.2382 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2382 RXFP2 Zornitza Stark Phenotypes for gene: RXFP2 were changed from to Cryptorchidism
Mendeliome v0.2381 RXFP2 Zornitza Stark Publications for gene: RXFP2 were set to
Mendeliome v0.2380 RXFP2 Zornitza Stark Mode of inheritance for gene: RXFP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2536 SLC44A1 Sebastian Lunke gene: SLC44A1 was added
gene: SLC44A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
gene: SLC44A1 was marked as current diagnostic
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Mendeliome v0.2379 RXFP2 Zornitza Stark Classified gene: RXFP2 as Red List (low evidence)
Mendeliome v0.2379 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2378 RXFP2 Zornitza Stark reviewed gene: RXFP2: Rating: RED; Mode of pathogenicity: None; Publications: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2378 WIPI2 Melanie Marty gene: WIPI2 was added
gene: WIPI2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 30968111
Phenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Review for gene: WIPI2 was set to AMBER
Added comment: Four homozygous patients from one consanguineous family with intellectual developmental, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.
Sources: Literature
Mendeliome v0.2378 SEC31A Hazel Phillimore gene: SEC31A was added
gene: SEC31A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to PMID: 30464055
Phenotypes for gene: SEC31A were set to congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Review for gene: SEC31A was set to AMBER
Added comment: Frameshift. c.2776_2777, TA duplication, causing predicted p.A927fs*61 truncation and predicted NMD in 2 affected siblings in consanguineous Bedouin family with severe congenital neurological syndrome with spastic paraplegia, multiple contractures, profound developmental delay and convulsions. Failure to thrive. Lethal by age 4 years. Also had hearing defect, bilateral congenital cataract, horizontal nystagmus, with flat retina and optic atrophy. Supporting functional assays from knockout drosophila.
Sources: Literature
Mendeliome v0.2378 SLC44A1 Sebastian Lunke gene: SLC44A1 was added
gene: SLC44A1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Mendeliome v0.2377 TBX6 Dean Phelan reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30307510, 31015262; Phenotypes: congenital vertebral malformations, congenital scoliosis, spondylocostal dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2377 SMCHD1 Teresa Zhao reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31600781; Phenotypes: Bosma arhinia microphthalmia syndrome, MIM 603457, Fascioscapulohumeral muscular dystrophy 2, digenic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Classified gene: PKDCC as Amber List (moderate evidence)
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.14 PKDCC Zornitza Stark gene: PKDCC was added
gene: PKDCC was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to 30478137; 19097194
Phenotypes for gene: PKDCC were set to Rhizomelia; dysmorphism
Review for gene: PKDCC was set to AMBER
Added comment: Two unrelated consanguineous families reported with different homozygous variants
Pre-existing mouse model has similar phenotype
Sources: Literature
Mendeliome v0.2377 CDKL5 Ain Roesley reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27080038, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes, Epileptic encephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Aortopathy_Connective Tissue Disorders v0.14 AEBP1 Kristin Rigbye reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606302, 30668708, 30548383, 30759870; Phenotypes: Ehlers-Danlos Syndrome (EDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.14 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2377 GSX2 Elena Savva gene: GSX2 was added
gene: GSX2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to PMID: 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
Review for gene: GSX2 was set to GREEN
Added comment: PMID: 31412107 - 2 unrelated patients with homozygous mutations (nonsense, missense). Functional analysis of the missense in transfected HeLa cells demonstrated protein mislocalization and protein expression. Downstream gene expression was also reduced by both mutations.

Summary: GREEN - 2 patients and functional evidence
Sources: Literature
Incidentalome v0.19 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Incidentalome v0.19 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.13 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21217753, 30661052; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.19 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Incidentalome v0.18 SMAD3 Zornitza Stark Publications for gene: SMAD3 were set to
Incidentalome v0.17 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2377 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
Mendeliome v0.2377 SPEF2 Zornitza Stark Gene: spef2 has been classified as Green List (High Evidence).
Mendeliome v0.2377 SPEF2 Zornitza Stark Classified gene: SPEF2 as Green List (high evidence)
Mendeliome v0.2377 SPEF2 Zornitza Stark Gene: spef2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2535 CTCF Zornitza Stark Marked gene: CTCF as ready
Intellectual disability syndromic and non-syndromic v0.2535 CTCF Zornitza Stark Gene: ctcf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2535 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from to Mental retardation, autosomal dominant 21 (MIM#615502)
Intellectual disability syndromic and non-syndromic v0.2534 CTCF Zornitza Stark Publications for gene: CTCF were set to
Intellectual disability syndromic and non-syndromic v0.2533 CTCF Zornitza Stark Mode of inheritance for gene: CTCF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2376 CREB3L1 Kristin Rigbye reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.57 DHH Zornitza Stark Marked gene: DHH as ready
Hereditary Neuropathy v0.57 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.57 DHH Zornitza Stark Classified gene: DHH as Green List (high evidence)
Hereditary Neuropathy v0.57 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.56 DHH Zornitza Stark gene: DHH was added
gene: DHH was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHH were set to 31018998; 29471294; 11017805
Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Review for gene: DHH was set to GREEN
Added comment: Neuropathy is part of the phenotype of this DSD.
Sources: Expert Review
Mendeliome v0.2376 PKDCC Alison Yeung Marked gene: PKDCC as ready
Mendeliome v0.2376 PKDCC Alison Yeung Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2376 PKDCC Alison Yeung Classified gene: PKDCC as Amber List (moderate evidence)
Mendeliome v0.2376 PKDCC Alison Yeung Added comment: Comment on list classification: Two unrelated consanguineous families reported with different homozygous variants
Pre-existing mouse model has similar phenotype
Needs more functional evidence or further reported families
Mendeliome v0.2376 PKDCC Alison Yeung Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Incidentalome v0.16 SMAD3 Melanie Marty reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21217753, 30661052; Phenotypes: Loeys-Dietz syndrome 3 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2375 SPEF2 Chern Lim gene: SPEF2 was added
gene: SPEF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751
Review for gene: SPEF2 was set to GREEN
gene: SPEF2 was marked as current diagnostic
Added comment: More than 3 unrelated families reported, all PTVs or splice variant. Functional studies showed SPEF2 protein levels were reduced in patients’ spermatozoa. (PMIDs: 31151990, 31278745, 31048344).
Sources: Literature
Mendeliome v0.2375 DHH Zornitza Stark Phenotypes for gene: DHH were changed from to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Intellectual disability syndromic and non-syndromic v0.2532 CTCF Crystle Lee reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746550, 31239556; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2374 DHH Zornitza Stark Publications for gene: DHH were set to
Mendeliome v0.2373 DHH Zornitza Stark Mode of inheritance for gene: DHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2372 ACKR3 Elena Savva gene: ACKR3 was added
gene: ACKR3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACKR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACKR3 were set to PMID: 3121183
Phenotypes for gene: ACKR3 were set to Oculomotor synkinesis
Review for gene: ACKR3 was set to AMBER
Added comment: No phenotype currently listed in OMIM

PMID: 3121183 - 1 family (3 siblings and a cousin) with congenital ptosis and oculomotor synkinesis. Mouse model reciprocated the phenotype. Functional assay using transfected HEK293 cells show protein mislocalization and lower binding affinity

Emerging gene-disease association
Sources: Literature
Differences of Sex Development v0.17 DHH Zornitza Stark Marked gene: DHH as ready
Differences of Sex Development v0.17 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Differences of Sex Development v0.17 DHH Zornitza Stark Phenotypes for gene: DHH were changed from to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Differences of Sex Development v0.16 DHH Zornitza Stark Publications for gene: DHH were set to
Differences of Sex Development v0.15 DHH Zornitza Stark Mode of inheritance for gene: DHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2372 CYLD Kristin Rigbye edited their review of gene: CYLD: Changed publications: 10835629, 16307661, 12950348, 19807742, 32185393
Intellectual disability syndromic and non-syndromic v0.2532 MAB21L1 Zornitza Stark Publications for gene: MAB21L1 were set to 30487245
Congenital Heart Defect v0.27 TLL1 Bryony Thompson reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27418595, 30538173, 31570783, 18830233, 10331975; Phenotypes: Atrial septal defect 6 MIM#613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2372 MYCN Zornitza Stark Marked gene: MYCN as ready
Mendeliome v0.2372 MYCN Zornitza Stark Gene: mycn has been classified as Green List (High Evidence).
Mendeliome v0.2372 CYLD Kristin Rigbye reviewed gene: CYLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835629, 16307661, 12950348, 19807742; Phenotypes: Brooke-Spiegler syndrome, 605041, Cylindromatosis, familial, 132700, Trichoepithelioma, multiple familial, 1, 601606, Frontotemporal dementia and amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2372 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from to Feingold syndrome 1; megalencephaly; ventriculomegaly; hypoplastic corpus callosum; intellectual disability; polydactyly; neuroblastoma
Mendeliome v0.2371 CNNM4 Zornitza Stark Marked gene: CNNM4 as ready
Mendeliome v0.2371 CNNM4 Zornitza Stark Gene: cnnm4 has been classified as Green List (High Evidence).
Mendeliome v0.2371 PCDH19 Ee Ming Wong reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18469813, 30287595; Phenotypes: PCDH19-related epilepsy (early seizure onset, generalised or focused seizures), cognitive impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.2371 CNNM4 Zornitza Stark Phenotypes for gene: CNNM4 were changed from to Jalili syndrome 217080; amelogenesis imperfecta, cone-rod dystrophy
Mendeliome v0.2370 MYCN Zornitza Stark Publications for gene: MYCN were set to
Mendeliome v0.2369 MYCN Zornitza Stark Mode of inheritance for gene: MYCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2368 GFAP Paul De Fazio reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138011, 12034785, 31004048, 15732097; Phenotypes: Leukodystrophy, macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.2368 ATM Zornitza Stark Marked gene: ATM as ready
Mendeliome v0.2368 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Mendeliome v0.2368 CNNM4 Zornitza Stark Publications for gene: CNNM4 were set to
Mendeliome v0.2367 CNNM4 Zornitza Stark Mode of inheritance for gene: CNNM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2366 ATM Zornitza Stark Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2365 COPA Teresa Zhao reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31455335, 30804679; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease, MIM 616414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2365 ADAMTS19 Crystle Lee changed review comment from: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review; to: Borderline amber/green
PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review
Mendeliome v0.2365 FOXG1 Ain Roesley reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18571142, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2365 ADAMTS19 Crystle Lee changed review comment from: PMID: 31844321; Wünnemann 2020: 4 affected in unrelated 2 consanguineous family with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review; to: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review
Mendeliome v0.2365 PLOD3 Sarah Pantaleo reviewed gene: PLOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18834968, 31129566, 30237576, 30463024; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2365 SAMD12 Melanie Marty gene: SAMD12 was added
gene: SAMD12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SAMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD12 were set to 30194086; 29507423
Phenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1 601068
Review for gene: SAMD12 was set to GREEN
Added comment: Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains.
Sources: Literature
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32276433, 31373179; Phenotypes: Joubert syndrome 10, MIM 300804, Orofaciodigital syndrome I, MIM 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.2365 FUS Elena Savva gene: FUS was added
gene: FUS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FUS were set to PMID: 32281455; 20668259; 20385912
Phenotypes for gene: FUS were set to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 608030; Essential tremor, hereditary, 4 614782
Mode of pathogenicity for gene: FUS was set to Other
Review for gene: FUS was set to GREEN
Added comment: PMID: 32281455 - Reports a case of Pediatric Amyotrophic Lateral Sclerosis. Reviews and shows multiple other reports of ALS casued by FUS

PMID: 20668259 - additional reports of ALS

PMID: 20385912 - postulated that disruption of this region may disrupt subcellular distribution of FUS, in turn affecting transcription and RNA processing and conferring a toxic gain of function.
Sources: Literature
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao Deleted their review
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao commented on gene: OFD1
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao Deleted their review
Mendeliome v0.2365 TBX6 Sarah Pantaleo reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8954725, 20503311, 23335591, 25564734, 31015262; Phenotypes: Skeletal dysplasia, spondylocostal dysostosis, congenital scoliosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31373179, 31373179; Phenotypes: Joubert syndrome 10, MIN 300804, Orofaciodigital syndrome I, MIN 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.2365 UBE3A Ain Roesley reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2365 ADAMTS19 Crystle Lee gene: ADAMTS19 was added
gene: ADAMTS19 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321
Phenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease
Review for gene: ADAMTS19 was set to GREEN
Added comment: PMID: 31844321; Wünnemann 2020: 4 affected in unrelated 2 consanguineous family with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review
Mendeliome v0.2365 ELOVL1 Hazel Phillimore changed review comment from: De novo in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.; to: De novo missense (S165F) in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.
Mendeliome v0.2365 C9orf72 Elena Savva gene: C9orf72 was added
gene: C9orf72 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C9orf72 were set to PMID: 30120348; 23284068
Phenotypes for gene: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Review for gene: C9orf72 was set to AMBER
Added comment: Possibly RED

Caused by expansion of GGGGCC repeats, dont know if these qualify for mendeliome
Sources: Literature
Mendeliome v0.2365 ELOVL1 Hazel Phillimore reviewed gene: ELOVL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30487246, 29496980; Phenotypes: ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness, optic atrophy, nystagmus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2365 TNFRSF21 Alison Yeung Marked gene: TNFRSF21 as ready
Mendeliome v0.2365 TNFRSF21 Alison Yeung Gene: tnfrsf21 has been classified as Red List (Low Evidence).
Mendeliome v0.2365 TNFRSF21 Alison Yeung Classified gene: TNFRSF21 as Red List (low evidence)
Mendeliome v0.2365 TNFRSF21 Alison Yeung Added comment: Comment on list classification: Report of single family
Limited functional evidence: tissue expression studies
Mendeliome v0.2365 TNFRSF21 Alison Yeung Gene: tnfrsf21 has been classified as Red List (Low Evidence).
Mendeliome v0.2364 YARS Dean Phelan reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30304524, 29232904, 27633801, 19561293; Phenotypes: peripheral neuropathy, multisystem disease, CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2364 CFAP65 Daniel Flanagan gene: CFAP65 was added
gene: CFAP65 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP65 were set to 31501240; 31413122
Phenotypes for gene: CFAP65 were set to Spermatogenic failure 40 618664
Penetrance for gene: CFAP65 were set to unknown
Review for gene: CFAP65 was set to GREEN
gene: CFAP65 was marked as current diagnostic
Added comment: 9 patients with multiple morphological abnormalities of the sperm flagella (MMAF) or completely immotile spermatozoa, in which, homozygous or compound heterozygous truncating CFAP65 variants were identified. Cfap65-mutated male mice displayed typical MMAF phenotypes with severe morphological abnormalities of the sperm flagella (PMID: 31501240, 31413122).
Sources: Literature
Mendeliome v0.2364 CAP2 Melanie Marty gene: CAP2 was added
gene: CAP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to 30518548
Phenotypes for gene: CAP2 were set to Dilated cardiomyopathy
Review for gene: CAP2 was set to AMBER
Added comment: 2 patients with dilated cardiomyopathy from 1 consanguineous family. The splice variant identified in this family was proven to cause exon skipping and functional studies showed protein level was reduced. A Cap2 knockout mouse model correlated with the clinical phenotype of DCM and cardiac conduction disease, but not the other effects on growth, viability, wound healing and eye development.
Sources: Literature
Mendeliome v0.2364 USP45 Alison Yeung Marked gene: USP45 as ready
Mendeliome v0.2364 USP45 Alison Yeung Gene: usp45 has been classified as Green List (High Evidence).
Mendeliome v0.2364 USP45 Alison Yeung Classified gene: USP45 as Green List (high evidence)
Mendeliome v0.2364 USP45 Alison Yeung Added comment: Comment on list classification: Two unrelated families
Functional studies in animal model recapitulate retinal phenotype
Mendeliome v0.2364 USP45 Alison Yeung Gene: usp45 has been classified as Green List (High Evidence).
Mendeliome v0.2363 SYCP2 Zornitza Stark Marked gene: SYCP2 as ready
Mendeliome v0.2363 SYCP2 Zornitza Stark Gene: sycp2 has been classified as Green List (High Evidence).
Mendeliome v0.2363 SYCP2 Zornitza Stark Classified gene: SYCP2 as Green List (high evidence)
Mendeliome v0.2363 SYCP2 Zornitza Stark Gene: sycp2 has been classified as Green List (High Evidence).
Mendeliome v0.2362 IGF1R Michelle Torres reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944; Phenotypes: Insulin-like growth factor I, resistance to 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2362 SHANK3 Ain Roesley reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2362 SCN1A Ee Ming Wong reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30368457, 12754708, 25754450; Phenotypes: Dravet Syndrome, Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome, Febrile seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.2362 SYCP2 Zornitza Stark gene: SYCP2 was added
gene: SYCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SYCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYCP2 were set to 32092049; 31866047
Phenotypes for gene: SYCP2 were set to Male infertility
Review for gene: SYCP2 was set to GREEN
Added comment: Four individuals and a zebrafish model.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Marked gene: COASY as ready
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Added comment: Comment when marking as ready: Currently only two families reported with cerebellar hypoplasia.
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Gene: coasy has been classified as Red List (Low Evidence).
Mendeliome v0.2361 STXBP1 Ain Roesley reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Classified gene: COASY as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Gene: coasy has been classified as Red List (Low Evidence).
Mendeliome v0.2361 NAA10 Naomi Baker reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842225.; Phenotypes: syndromic X-linked microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.2361 WDR45 Ain Roesley reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.32 CWF19L1 Elena Savva gene: CWF19L1 was added
gene: CWF19L1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to PMID:26197978; 25361784; 27016154; 15981765
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 616127
Review for gene: CWF19L1 was set to GREEN
Added comment: Cerebellar hypoplasia predominantly affecting the vermis (OMIM)

PMID: 26197978 - 1 child with severe cerebellar hypoplasia (see below)

PMID: 25361784 - 1 family (2 siblings) with hypoplasia in the vermis and cerebellar hemispheres. Zebrafish animal model showed defective cerebellar structure and diminished staining

PMID: 27016154 - 1 family (1 child) with early onset cerebellar atrophy, proven by serial MRIs. Authors specify this is NOT hypoplasia, and highlight that PMID: 26197978 incorrectly reported hypoplasia instead of atrophy. Authors also acknowledge that hypoplasia and atrophy may be both occurring. Also notes MRI results from PMID: 15981765 have been published in PMID: 25361784.

PMID: 15981765 - 3 unrelated families (3 sibling pairs) with cerebellar hemisphere and vermis hypoplasia. Described as non-progressive.
Sources: Expert Review
Mendeliome v0.2361 SOD2 Chern Lim reviewed gene: SOD2: Rating: RED; Mode of pathogenicity: None; Publications: 31494578; Phenotypes: Lethal neonatal dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.37 SMPD4 Alison Yeung Marked gene: SMPD4 as ready
Arthrogryposis v0.37 SMPD4 Alison Yeung Gene: smpd4 has been classified as Green List (High Evidence).
Arthrogryposis v0.37 SMPD4 Alison Yeung Classified gene: SMPD4 as Green List (high evidence)
Arthrogryposis v0.37 SMPD4 Alison Yeung Gene: smpd4 has been classified as Green List (High Evidence).
Mendeliome v0.2361 ASCC1 Sarah Pantaleo reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30327447, 12077347, 26924529, 31880396, 26503956; Phenotypes: Arthrogryposis, congenital bone fractures, spinal muscular atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Arthrogryposis v0.36 SMPD4 Alison Yeung gene: SMPD4 was added
gene: SMPD4 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Microcephaly; congenital arthrogryposis, intellectual disability
Review for gene: SMPD4 was set to GREEN
gene: SMPD4 was marked as current diagnostic
Added comment: Expansion of phenotype in known neurodevelopment disease gene
12 unrelated families reported. Arthrogryposis is a feature in 85%
Sources: Literature
Mendeliome v0.2361 SMAD2 Melanie Marty reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29967133; Phenotypes: Aortic and arterial aneurysmal disease, connective tissue disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2361 MYCN Ain Roesley reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21224895, 8470948, 30573562; Phenotypes: Feingold syndrome 1, megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly, neuroblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2531 ZMYND11 Zornitza Stark Marked gene: ZMYND11 as ready
Intellectual disability syndromic and non-syndromic v0.2531 ZMYND11 Zornitza Stark Gene: zmynd11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2531 ZMYND11 Zornitza Stark Phenotypes for gene: ZMYND11 were changed from to Mental retardation, autosomal dominant 30, MIM# 616083
Mendeliome v0.2361 MYCN Ain Roesley Deleted their review
Intellectual disability syndromic and non-syndromic v0.2530 ZMYND11 Zornitza Stark Publications for gene: ZMYND11 were set to
Intellectual disability syndromic and non-syndromic v0.2529 ZMYND11 Zornitza Stark Mode of inheritance for gene: ZMYND11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2528 ZMYND11 Zornitza Stark reviewed gene: ZMYND11: Rating: GREEN; Mode of pathogenicity: None; Publications: 32097528; Phenotypes: Mental retardation, autosomal dominant 30, MIM# 616083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2361 MYCN Ain Roesley changed review comment from: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function; to: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function
Mendeliome v0.2361 RXFP2 Teresa Zhao reviewed gene: RXFP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2361 PKDCC Paul De Fazio gene: PKDCC was added
gene: PKDCC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to PMID:30478137; 19097194
Phenotypes for gene: PKDCC were set to Dysmorphism; shortening of extremities
Review for gene: PKDCC was set to AMBER
gene: PKDCC was marked as current diagnostic
Added comment: 2 ("apparently") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature
Mendeliome v0.2361 DHH Naomi Baker reviewed gene: DHH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31018998, 29471294, 11017805; Phenotypes: gonadal dysgenesis, minifascicular neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 MYCN Ain Roesley edited their review of gene: MYCN: Added comment: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function; Changed rating: RED; Changed publications: PMID: 30573562; Changed phenotypes: megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly, neuroblastoma
Differences of Sex Development v0.14 DHH Naomi Baker reviewed gene: DHH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31018998, 29471294, 11017805.; Phenotypes: gonadal dysgenesis, minifascicular neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.5 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Gastrointestinal neuromuscular disease v0.5 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.5 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900 to Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.4 MYH11 Zornitza Stark Publications for gene: MYH11 were set to 31044419; 31427716; 25407000
Intellectual disability syndromic and non-syndromic v0.2528 MAB21L1 Kristin Rigbye reviewed gene: MAB21L1: Rating: ; Mode of pathogenicity: None; Publications: 27103078, 30487245; Phenotypes: Syndromic scrotal agenesis, syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome), Cerebello-Oculo-Facio-Genital syndrome; Mode of inheritance: None
Gastrointestinal neuromuscular disease v0.3 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.2 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 31944481; Phenotypes: Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark edited their review of gene: POLD1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark Mode of inheritance for gene: POLD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2361 MYCN Ain Roesley reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18470948, 21224895; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.338 POLD1 Zornitza Stark Classified gene: POLD1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.338 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.337 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Deafness. Sources: Literature
Mode of inheritance for gene: POLD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Non-syndromic deafness
Review for gene: POLD1 was set to GREEN
Added comment: Established gene-disease association for mono-allelic variants with syndromic condition MIM#615381, which has deafness as a feature. Recent report of 5 individuals from a single family segregating bi-allelic variants in this gene and non-syndromic deafness. Please note association with non-syndromic deafness does not currently meet evidence threshold for Green rating.
Sources: Literature
Mendeliome v0.2361 TNFRSF21 Shannon Cowie gene: TNFRSF21 was added
gene: TNFRSF21 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: TNFRSF21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFRSF21 were set to PMID: 31189563
Phenotypes for gene: TNFRSF21 were set to high myopia
Review for gene: TNFRSF21 was set to RED
gene: TNFRSF21 was marked as current diagnostic
Added comment: Source: JMG review Oct 2019
Large Chinese family, including 12 patients with non-syndromic HM
Immunofluorescence assay indicated that it is strongly expressed in the mouse eye.
Sources: Other
Mendeliome v0.2361 USP45 Kristin Rigbye gene: USP45 was added
gene: USP45 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP45 were set to 30573563
Phenotypes for gene: USP45 were set to Leber congenital amaurosis; retinal dystrophy
Review for gene: USP45 was set to GREEN
Added comment: 2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies supported gene-disease association.

PMID: 30573563 "By analysing WES data based on allele frequencies of in-house controls, population allele frequencies and in silico prediction tools, two rare homozygous mutations in USP45 were identified in two unrelated families. Immunohistochemistry of USP45 in the human and zebrafish retinal sections revealed enriched expression in the inner segments of photoreceptors. The knockdown of usp45 transcript in zebrafish led to abnormal retinal development with effects on photoreceptors, which could be successfully rescued by wild-type usp45 mRNA. Moreover, targeted knockout of Usp45 in mice caused abnormal electroretinography responses, similar to that seen in patients with LCA."
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.32 COASY Elena Savva gene: COASY was added
gene: COASY was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to PMID: 30089828; 27021474; 24360804
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Review for gene: COASY was set to AMBER
Added comment: Emerging genotype-phenotype association:

PMID: 30089828 - 2 families (4 affecteds) with pontocerebellar hypoplasia. All patients have variants resulting in near-null protein expression. Same patient listed in Decipher.

PMID: 27021474 - Patient with NBIA, has a homozygous missense and is 17 years old. Patient had MRI, no mention of cerebellar hypoplasia/atrophy

PMID: 24360804 - Two patients (one chet PTC and missense, other a homozygous missense). Both patients had brain MRI, no mention of cerebellar hypoplasia/atrophy

Summary:
If residual activity -> NBIA phenotype, no cerebellar issues
If completely or near null - pontocerebellar hypoplasia
Sources: Expert Review
Mendeliome v0.2361 CNNM4 Ain Roesley reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30705057; Phenotypes: Jalili syndrome (amelogenesis imperfecta, cone-rod dystrophy); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 ATM Kristin Rigbye reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30819809; Phenotypes: Ataxia-telangiectasia MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.85 BAZ2B Zornitza Stark Marked gene: BAZ2B as ready
Autism v0.85 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Autism v0.85 BAZ2B Zornitza Stark Classified gene: BAZ2B as Green List (high evidence)
Autism v0.85 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Autism v0.84 BAZ2B Zornitza Stark gene: BAZ2B was added
gene: BAZ2B was added to Autism. Sources: Literature
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768
Phenotypes for gene: BAZ2B were set to Intellectual disability; autism
Review for gene: BAZ2B was set to GREEN
Added comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Marked gene: BAZ2B as ready
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Classified gene: BAZ2B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2527 BAZ2B Zornitza Stark gene: BAZ2B was added
gene: BAZ2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAZ2B were set to 31999386
Phenotypes for gene: BAZ2B were set to Intellectual disability; autism
Review for gene: BAZ2B was set to GREEN
Added comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent
Sources: Literature
Mendeliome v0.2361 BAZ2B Zornitza Stark Marked gene: BAZ2B as ready
Mendeliome v0.2361 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Mendeliome v0.2361 BAZ2B Zornitza Stark Classified gene: BAZ2B as Green List (high evidence)
Mendeliome v0.2361 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Mendeliome v0.2360 BAZ2B Zornitza Stark gene: BAZ2B was added
gene: BAZ2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768
Phenotypes for gene: BAZ2B were set to Intellectual disability; autism
Review for gene: BAZ2B was set to GREEN
Added comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.32 TINF2 Crystle Lee gene: TINF2 was added
gene: TINF2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TINF2 were set to 18252230; 18979121; 18669893; 21477109
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (MIM#613990); Revesz syndrome (MIM#268130)
Review for gene: TINF2 was set to GREEN
Added comment: Cerebellar hypoplasia is reported but not a consistent feature. Commonly associated with specific variants reported to cause dyskeratosis congenita and features of Hoyeraal-Hreidarsson and Revesz syndrome. The variants in patients with HH and/or RS are clustered at aa 280, 282, and 283 (Walne 2008)

PMID: 18252230; Savage 2008: Cerebellar hypoplasia reported one proband diagnosed with dyskeratosis congenita and Revesz syndrome. Same missense, R282H, reported in 2 other individuals who did not have cerebellar hypoplasia
PMID: 18979121; Tsangaris 2008: 1 proband with the same R282H reported. Cerebellar hypoplasia noted.
PMID: 18669893; Walne 2008: Cerebellar hypoplasia reported in 1 of 14 patients with R282H
PMID: 21477109; Sasa 2013: Cerebellar hypoplasia reported in 1 patient, p.(K280RfsX36).
PanelApp UK: "Variable cerebellar hypoplasia seen in this condition" Green
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TMEM5 Crystle Lee gene: TMEM5 was added
gene: TMEM5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM5 were set to 23217329
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (MIM#615041)
Review for gene: TMEM5 was set to GREEN
Added comment: Associated with cerebellar dysplasia. This gene is also known as RXYLT1

PMID: 23217329; Vuillaumier-Barrot 2012: Reported hom variants in 5 families with cobblestone lissencephaly.
PMID: 27212206; Guja Astrea 2016; Reported one patient with dysplastic cerebellar cortex, and small subcortical cerebellar cysts. Hypoplasia of the pons with a ventral cleft and a dilated and dysmorphic fourth ventricle.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 CEP55 Elena Savva reviewed gene: CEP55: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28264986, 32100459, 28295209; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.32 TRAPPC6B Crystle Lee reviewed gene: TRAPPC6B: Rating: RED; Mode of pathogenicity: None; Publications: 28626029, 28397838; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.32 CACNA1G Elena Savva gene: CACNA1G was added
gene: CACNA1G was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1G were set to PMID: 29878067; 31217264; 26456284
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087
Mode of pathogenicity for gene: CACNA1G was set to Other
Review for gene: CACNA1G was set to GREEN
Added comment: OMIM notes Cerebellar hypoplasia as a phenotype

Mechanism currently listed as unknown, with evidence of both LoF and GoF (PMID: 31217264). PMID: 29878067 demonstrated impaired channel inactivation with slower inactivation and deactivation kinetics (suggesting GOF). Given only missense have been reported, this is the likely mechanism of disease.

PMID: 29878067 - cerebellar ataxia observed in 4 children, global atrophy in 3/4 and vermis atrophy in 1/4. All showed normal pons. Three children share a recurring de novo missense (p.Ala961Thr).

PMID: 26456284 - overlapping authors with 29878067 but describes familial cases. Additional (adult and children) patients with cerebellar hypoplasia and vermian atrophy
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TUBB Crystle Lee changed review comment from: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review; to: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients with de novo missense variants. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TUBB Crystle Lee gene: TUBB was added
gene: TUBB was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB were set to 23246003
Phenotypes for gene: TUBB were set to Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771)
Review for gene: TUBB was set to AMBER
Added comment: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 BCL11A Elena Savva reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27453576, 25979662; Phenotypes: Dias-Logan syndrome 617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Leukodystrophy v0.56 ISCA1 Bryony Thompson Marked gene: ISCA1 as ready
Leukodystrophy v0.56 ISCA1 Bryony Thompson Gene: isca1 has been classified as Green List (High Evidence).
Leukodystrophy v0.56 ISCA1 Bryony Thompson Publications for gene: ISCA1 were set to
Leukodystrophy v0.54 ISCA1 Bryony Thompson Classified gene: ISCA1 as Green List (high evidence)
Leukodystrophy v0.54 ISCA1 Bryony Thompson Gene: isca1 has been classified as Green List (High Evidence).
Leukodystrophy v0.53 ISCA1 Bryony Thompson gene: ISCA1 was added
gene: ISCA1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5 MIM#617613
Leukodystrophy v0.52 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Mendeliome v0.2359 TPI1 Zornitza Stark Marked gene: TPI1 as ready
Mendeliome v0.2359 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Mendeliome v0.2359 TPI1 Zornitza Stark Classified gene: TPI1 as Green List (high evidence)
Mendeliome v0.2359 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Mendeliome v0.2358 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, MIM# 615512
Review for gene: TPI1 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.2357 EMG1 Zornitza Stark Marked gene: EMG1 as ready
Mendeliome v0.2357 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2357 EMG1 Zornitza Stark Classified gene: EMG1 as Amber List (moderate evidence)
Mendeliome v0.2357 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2356 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 19463982
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, MIM#211180
Review for gene: EMG1 was set to AMBER
Added comment: Founder mutation in Hutterite, D86G.
Sources: Expert list
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Marked gene: EIF2AK4 as ready
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Gene: eif2ak4 has been classified as Green List (High Evidence).
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Classified gene: EIF2AK4 as Green List (high evidence)
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Gene: eif2ak4 has been classified as Green List (High Evidence).
Mendeliome v0.2354 EIF2AK4 Zornitza Stark gene: EIF2AK4 was added
gene: EIF2AK4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, MIM#234810
Review for gene: EIF2AK4 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.2353 AGBL5 Zornitza Stark Marked gene: AGBL5 as ready
Mendeliome v0.2353 AGBL5 Zornitza Stark Gene: agbl5 has been classified as Green List (High Evidence).
Mendeliome v0.2353 AGBL5 Zornitza Stark Classified gene: AGBL5 as Green List (high evidence)
Mendeliome v0.2353 AGBL5 Zornitza Stark Gene: agbl5 has been classified as Green List (High Evidence).
Mendeliome v0.2352 AGBL5 Zornitza Stark gene: AGBL5 was added
gene: AGBL5 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGBL5 were set to 26720455; 26355662; 30925032
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, MIM# 617023
Review for gene: AGBL5 was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SHOX Zornitza Stark Marked gene: SHOX as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.77 ZFR Bryony Thompson Marked gene: ZFR as ready
Hereditary Spastic Paraplegia v0.77 ZFR Bryony Thompson Gene: zfr has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.77 ZFR Bryony Thompson reviewed gene: ZFR: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.77 WDR48 Bryony Thompson Marked gene: WDR48 as ready
Hereditary Spastic Paraplegia v0.77 WDR48 Bryony Thompson Gene: wdr48 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.77 WDR48 Bryony Thompson Classified gene: WDR48 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.77 WDR48 Bryony Thompson Gene: wdr48 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.76 WDR48 Bryony Thompson reviewed gene: WDR48: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.76 USP8 Bryony Thompson reviewed gene: USP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: None
Hereditary Spastic Paraplegia v0.76 TPP1 Bryony Thompson changed review comment from: A single case reported with complicated HSP.; to: A single case reported with complicated HSP. Cannot find evidence that spastic paraplegia is a prominent feature of the condition.
Hereditary Spastic Paraplegia v0.76 TPP1 Bryony Thompson reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: None; Publications: 27217339; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.76 TPP1 Bryony Thompson Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis neuronal 2; complex hereditary spastic paraplegia to Ceroid lipofuscinosis neuronal 2
Hereditary Spastic Paraplegia v0.75 MTPAP Bryony Thompson Classified gene: MTPAP as Red List (low evidence)
Hereditary Spastic Paraplegia v0.75 MTPAP Bryony Thompson Gene: mtpap has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.74 MTPAP Bryony Thompson reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: 20970105, 27391121; Phenotypes: Spastic ataxia 4, autosomal recessive MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.74 MARS Bryony Thompson reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNF711 Zornitza Stark gene: ZNF711 was added
gene: ZNF711 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNF469 Zornitza Stark gene: ZNF469 was added
gene: ZNF469 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, 229200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZMYND10 Zornitza Stark gene: ZMYND10 was added
gene: ZMYND10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMYND10 were set to Ciliary dyskinesia, primary, 22, 615444 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal, 275210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZC4H2 Zornitza Stark gene: ZC4H2 was added
gene: ZC4H2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, 314580 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZAP70 were set to Selective T-cell defect, 269840 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, 615777 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WWOX Zornitza Stark gene: WWOX was added
gene: WWOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome, 277700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNT10B Zornitza Stark gene: WNT10B was added
gene: WNT10B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6, 225300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, 615220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome, 222300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome, 251300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR45B Zornitza Stark gene: WDR45B was added
gene: WDR45B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR45B were set to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Senior-Loken syndrome 8, 616307 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VWF Zornitza Stark gene: VWF was added
gene: VWF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VWF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VWF were set to von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VSX2 Zornitza Stark gene: VSX2 was added
gene: VSX2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, 615851 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS37A Zornitza Stark gene: VPS37A was added
gene: VPS37A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive, 614898 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS13A Zornitza Stark gene: VPS13A was added
gene: VPS13A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VMA21 Zornitza Stark gene: VMA21 was added
gene: VMA21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VARS Zornitza Stark gene: VARS was added
gene: VARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USB1 Zornitza Stark gene: USB1 was added
gene: USB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia, 604173 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UQCRC2 Zornitza Stark gene: UQCRC2 was added
gene: UQCRC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UPB1 Zornitza Stark gene: UPB1 was added
gene: UPB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, 613161 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UNC80 Zornitza Stark gene: UNC80 was added
gene: UNC80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to Orotic aciduria, 258900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I, 218800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UFM1 Zornitza Stark gene: UFM1 was added
gene: UFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, 243800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBE3B Zornitza Stark gene: UBE3B was added
gene: UBE3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, 244450 (3)
Hereditary Spastic Paraplegia v0.74 LARS2 Bryony Thompson reviewed gene: LARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 4 MIM#615300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBE2A Zornitza Stark gene: UBE2A was added
gene: UBE2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYRP1 Zornitza Stark gene: TYRP1 was added
gene: TYRP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYK2 Zornitza Stark gene: TYK2 was added
gene: TYK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYK2 were set to Immunodeficiency 35, 611521 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, 608572 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUSC3 Zornitza Stark gene: TUSC3 was added
gene: TUSC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7, 611093 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUFM Zornitza Stark gene: TUFM was added
gene: TUFM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUBGCP6 Zornitza Stark gene: TUBGCP6 was added
gene: TUBGCP6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTI2 Zornitza Stark gene: TTI2 was added
gene: TTI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTI2 were set to Mental retardation, autosomal recessive 39, 615541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSPYL1 Zornitza Stark gene: TSPYL1 was added
gene: TSPYL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSPAN7 Zornitza Stark gene: TSPAN7 was added
gene: TSPAN7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSPAN7 were set to Mental retardation, X-linked 58, 300210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, 277470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, 602014 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile, 613070 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, 200600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism, 253250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, 613192 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPM3 were set to Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPK1 Zornitza Stark gene: TPK1 was added
gene: TPK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TOE1 Zornitza Stark gene: TOE1 was added
gene: TOE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, 259710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFRSF13B Zornitza Stark gene: TNFRSF13B was added
gene: TNFRSF13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2, 240500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset, 239000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, 612301 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMTC3 Zornitza Stark gene: TMTC3 was added
gene: TMTC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6, 610688 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14, 614424 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20, 614970 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2, 608091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk, 614727 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16, 614465 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM126A Zornitza Stark gene: TMEM126A was added
gene: TMEM126A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM107 Zornitza Stark gene: TMEM107 was added
gene: TMEM107 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM107 were set to Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Jensen syndrome, 311150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 THOC2 Zornitza Stark gene: THOC2 was added
gene: THOC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, 605407 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TF were set to Atransferrinemia, 209300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TDRD7 Zornitza Stark gene: TDRD7 was added
gene: TDRD7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDRD7 were set to Cataract 36, 613887 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18, 614815 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, 259700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBX19 Zornitza Stark gene: TBX19 was added
gene: TBX19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCK were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Kenny-Caffey syndrome-1, 244460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBC1D23 Zornitza Stark gene: TBC1D23 was added
gene: TBC1D23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TAP1 Zornitza Stark gene: TAP1 was added
gene: TAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAP1 were set to Bare lymphocyte syndrome, type I, 604571 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency, 606003 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SYP Zornitza Stark gene: SYP was added
gene: SYP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYP were set to Mental retardation, X-linked 96, 300802 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SYN1 Zornitza Stark gene: SYN1 was added
gene: SYN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, 272300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, 272200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, 601186 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to Microcephaly 7, primary, autosomal recessive, 612703 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia, 201710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SSR4 Zornitza Stark gene: SSR4 was added
gene: SSR4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SQSTM1 Zornitza Stark gene: SQSTM1 was added
gene: SQSTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPNS1 Zornitza Stark gene: SPNS1 was added
gene: SPNS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPNS1 were set to Immunodeficiency 52, 617514 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPINT2 Zornitza Stark gene: SPINT2 was added
gene: SPINT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, 604360 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPATA7 Zornitza Stark gene: SPATA7 was added
gene: SPATA7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA7 were set to Leber congenital amaurosis 3, 604232 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPART Zornitza Stark gene: SPART was added
gene: SPART was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were set to Troyer syndrome, 275900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPAG1 Zornitza Stark gene: SPAG1 was added
gene: SPAG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPAG1 were set to Ciliary dyskinesia, primary, 28, 615505 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Sclerosteosis 1, 269500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SNX14 Zornitza Stark gene: SNX14 was added
gene: SNX14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia, 242900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC9A3 Zornitza Stark gene: SLC9A3 was added
gene: SLC9A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A3 were set to Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC5A7 Zornitza Stark gene: SLC5A7 was added
gene: SLC5A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR, 611590 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC38A8 Zornitza Stark gene: SLC38A8 was added
gene: SLC38A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, 269250 (3)
Hereditary Spastic Paraplegia v0.74 KLC4 Bryony Thompson reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: None; Publications: 26423925; Phenotypes: Complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC35A3 Zornitza Stark gene: SLC35A3 was added
gene: SLC35A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A3 were set to ?Arthrogryposis, mental retardation, and seizures
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, 227810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC24A5 Zornitza Stark gene: SLC24A5 was added
gene: SLC24A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI, 113750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, 616095 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25, 615905 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A5 were set to Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SHOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SH3TC2 Zornitza Stark gene: SH3TC2 was added
gene: SH3TC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome 14, 617575 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGO1 Zornitza Stark gene: SGO1 was added
gene: SGO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCB Zornitza Stark gene: SGCB was added
gene: SGCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, 613982 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEMA4A Zornitza Stark gene: SEMA4A was added
gene: SEMA4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1, 602771 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCYL1 Zornitza Stark gene: SCYL1 was added
gene: SCYL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, 264350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Insensitivity to pain, congenital, 243000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome, 600920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCARB2 Zornitza Stark gene: SCARB2 was added
gene: SCARB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SBF2 Zornitza Stark gene: SBF2 was added
gene: SBF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, 260400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMD9 were set to Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia, 255320 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RTN4IP1 Zornitza Stark gene: RTN4IP1 was added
gene: RTN4IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12, 612650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11, 612649 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RSPH1 Zornitza Stark gene: RSPH1 was added
gene: RSPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH1 were set to Ciliary dyskinesia, primary, 24, 615481 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5, 611561 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RP2 Zornitza Stark gene: RP2 was added
gene: RP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RORC Zornitza Stark gene: RORC was added
gene: RORC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RORC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RORC were set to Immunodeficiency 42, 616622 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, 268310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, 226750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ROBO3 Zornitza Stark gene: ROBO3 was added
gene: ROBO3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROBO3 were set to Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RIPK4 Zornitza Stark gene: RIPK4 was added
gene: RIPK4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome 2, lethal type, 263650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RIN2 Zornitza Stark gene: RIN2 was added
gene: RIN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFXANK Zornitza Stark gene: RFXANK was added
gene: RFXANK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, 612015 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 REN Zornitza Stark gene: REN was added
gene: REN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis, 267430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 REEP6 Zornitza Stark gene: REEP6 was added
gene: REEP6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REEP6 were set to Retinitis pigmentosa 77, 617304 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, 218600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RCBTB1 Zornitza Stark gene: RCBTB1 was added
gene: RCBTB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RBCK1 Zornitza Stark gene: RBCK1 was added
gene: RBCK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAX Zornitza Stark gene: RAX was added
gene: RAX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9, 616140 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence, 208150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAD50 Zornitza Stark gene: RAD50 was added
gene: RAD50 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, 613078 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB39B Zornitza Stark gene: RAB39B was added
gene: RAB39B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB33B Zornitza Stark gene: RAB33B was added
gene: RAB33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, 615222 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2, 607624 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome, 201000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PYROXD1 Zornitza Stark gene: PYROXD1 was added
gene: PYROXD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PYCR2 Zornitza Stark gene: PYCR2 was added
gene: PYCR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10, 616420 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PXDN Zornitza Stark gene: PXDN was added
gene: PXDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, 614023 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSMB8 Zornitza Stark gene: PSMB8 was added
gene: PSMB8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Dejerine-Sottas disease, 145900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PROS1 Zornitza Stark gene: PROS1 was added
gene: PROS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, 262600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PROC Zornitza Stark gene: PROC was added
gene: PROC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B, 612437 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRG4 Zornitza Stark gene: PRG4 was added
gene: PRG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRDM5 Zornitza Stark gene: PRDM5 was added
gene: PRDM5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRDM12 Zornitza Stark gene: PRDM12 was added
gene: PRDM12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PPA2 Zornitza Stark gene: PPA2 was added
gene: PPA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive
Hereditary Spastic Paraplegia v0.74 PGAP1 Bryony Thompson Marked gene: PGAP1 as ready
Hereditary Spastic Paraplegia v0.74 PGAP1 Bryony Thompson Gene: pgap1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Hereditary Spastic Paraplegia v0.74 PGAP1 Bryony Thompson Classified gene: PGAP1 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.74 PGAP1 Bryony Thompson Gene: pgap1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMP Zornitza Stark gene: POMP was added
gene: POMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLR3B Zornitza Stark gene: POLR3B was added
gene: POLR3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLA1 Zornitza Stark gene: POLA1 was added
gene: POLA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome, 215470 (3)
Hereditary Spastic Paraplegia v0.73 PGAP1 Bryony Thompson reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Mental retardation, autosomal recessive MIM#42; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNP Zornitza Stark gene: PNP was added
gene: PNP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly, seizures, and developmental delay, 613402 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PMPCA Zornitza Stark gene: PMPCA was added
gene: PMPCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, 212065 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2, 609220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, type VI, 225400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I, 217090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome, type 3, 610725 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, 266200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, 611369 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIH1D3 Zornitza Stark gene: PIH1D3 was added
gene: PIH1D3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGO were set to Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGL were set to CHIME syndrome, 280000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGG Zornitza Stark gene: PIGG was added
gene: PIGG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGG were set to Mental retardation, autosomal recessive 53, 616917 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease, 266500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, 615816 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGAP1 Zornitza Stark gene: PGAP1 was added
gene: PGAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to Prolidase deficiency, 170100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDE6C Zornitza Stark gene: PDE6C was added
gene: PDE6C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6C were set to Cone dystrophy 4, 613093 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDE6B Zornitza Stark gene: PDE6B was added
gene: PDE6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDE6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Retinitis pigmentosa-40, 613801 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCSK1 Zornitza Stark gene: PCSK1 was added
gene: PCSK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCDH12 Zornitza Stark gene: PCDH12 was added
gene: PCDH12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, 234200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria, 261600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OTUD6B Zornitza Stark gene: OTUD6B was added
gene: OTUD6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5, 259720 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPN1LW Zornitza Stark gene: OPN1LW was added
gene: OPN1LW was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPN1LW were set to Blue cone monochromacy, 303700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Behr syndrome, 210000 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Albinism, brown oculocutaneous, 203200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2, 612921 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUP93 Zornitza Stark gene: NUP93 was added
gene: NUP93 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, 271930 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUP107 Zornitza Stark gene: NUP107 was added
gene: NUP107 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NT5C2 Zornitza Stark gene: NT5C2 was added
gene: NT5C2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, 613162 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NSUN2 Zornitza Stark gene: NSUN2 was added
gene: NSUN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, 611091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CK syndrome, 300831 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHS2 Zornitza Stark gene: NPHS2 was added
gene: NPHS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4, 606996 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, 607625 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, 257220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NNT Zornitza Stark gene: NNT was added
gene: NNT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, 614736 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NLGN4X were set to Mental retardation, X-linked, 300495 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NKX6-2 Zornitza Stark gene: NKX6-2 was added
gene: NKX6-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NGF Zornitza Stark gene: NGF was added
gene: NGF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, 300912 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I, 256550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, 256030 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Leigh syndrome, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDRG1 Zornitza Stark gene: NDRG1 was added
gene: NDRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to Norrie disease, 310600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NALCN Zornitza Stark gene: NALCN was added
gene: NALCN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency, 300855 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYO5B Zornitza Stark gene: MYO5B was added
gene: MYO5B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5B were set to Microvillus inclusion disease, 251850 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYD88 Zornitza Stark gene: MYD88 was added
gene: MYD88 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria, 610377 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTTP Zornitza Stark gene: MTTP was added
gene: MTTP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTMR2 Zornitza Stark gene: MTMR2 was added
gene: MTMR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTHFD1 Zornitza Stark gene: MTHFD1 was added
gene: MTHFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTFMT Zornitza Stark gene: MTFMT was added
gene: MTFMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MRE11 Zornitza Stark gene: MRE11 was added
gene: MRE11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder, 604391 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MRAP Zornitza Stark gene: MRAP was added
gene: MRAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, 607398 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPZ were set to Dejerine-Sottas disease, 145900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPDZ Zornitza Stark gene: MPDZ was added
gene: MPDZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDZ were set to Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B, 252160 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMP21 Zornitza Stark gene: MMP21 was added
gene: MMP21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP21 were set to Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMP2 Zornitza Stark gene: MMP2 was added
gene: MMP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome, 245150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MGME1 Zornitza Stark gene: MGME1 was added
gene: MGME1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, 212066 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MFSD2A Zornitza Stark gene: MFSD2A was added
gene: MFSD2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 METTL23 Zornitza Stark gene: METTL23 was added
gene: METTL23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MERTK Zornitza Stark gene: MERTK was added
gene: MERTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MERTK were set to Retinitis pigmentosa 38, 613862 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to Carpenter syndrome 2, 614976 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED23 Zornitza Stark gene: MED23 was added
gene: MED23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED23 were set to Mental retardation, autosomal recessive 18, 614249 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED17 Zornitza Stark gene: MED17 was added
gene: MED17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCM4 Zornitza Stark gene: MCM4 was added
gene: MCM4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM4 were set to Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, 613625 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MC2R Zornitza Stark gene: MC2R was added
gene: MC2R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MARS2 Zornitza Stark gene: MARS2 was added
gene: MARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MARS Zornitza Stark gene: MARS was added
gene: MARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS were set to Interstitial lung and liver disease, 615486 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAPKBP1 Zornitza Stark gene: MAPKBP1 was added
gene: MAPKBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, 617271 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAOA Zornitza Stark gene: MAOA was added
gene: MAOA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAN1B1 Zornitza Stark gene: MAN1B1 was added
gene: MAN1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN1B1 were set to Mental retardation, autosomal recessive 15, 614202 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MALT1 Zornitza Stark gene: MALT1 was added
gene: MALT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MALT1 were set to Immunodeficiency 12, 615468 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LTBP4 Zornitza Stark gene: LTBP4 was added
gene: LTBP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC, 613177 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP3 were set to Tooth agenesis, selective, 6, 613097 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRSAM1 Zornitza Stark gene: LRSAM1 was added
gene: LRSAM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome, 259770 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRMDA Zornitza Stark gene: LRMDA was added
gene: LRMDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII, 615179 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRIG2 Zornitza Stark gene: LRIG2 was added
gene: LRIG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIG2 were set to Urofacial syndrome 2, 615112 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN2 were set to Majeed syndrome, 609628 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LPIN1 Zornitza Stark gene: LPIN1 was added
gene: LPIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, 616165 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBR1 were set to Acheiropody, 200500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMAN1 Zornitza Stark gene: LMAN1 was added
gene: LMAN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMAN1 were set to Combined factor V and VIII deficiency, 227300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIPT1 Zornitza Stark gene: LIPT1 was added
gene: LIPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency, 616299 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIPC Zornitza Stark gene: LIPC was added
gene: LIPC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LINS1 Zornitza Stark gene: LINS1 was added
gene: LINS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LINS1 were set to Mental retardation, autosomal recessive 27, 614340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to LIG4 syndrome, 606593 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, 614962 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDLRAP1 Zornitza Stark gene: LDLRAP1 was added
gene: LDLRAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2/Hypercholesterolemia, familial
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDHB Zornitza Stark gene: LDHB was added
gene: LDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHB were set to Lactate dehydrogenase-B deficiency, 614128 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDHA Zornitza Stark gene: LDHA was added
gene: LDHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHA were set to Glycogen storage disease XI, 612933 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, 245900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LCA5 Zornitza Stark gene: LCA5 was added
gene: LCA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia, 215140 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4, 615300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to ?Infantile liver failure syndrome 1
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARP7 were set to Alazami syndrome, 615071 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC3 were set to Cortical malformations, occipital, 614115 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome, 609049 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, 615960 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KY Zornitza Stark gene: KY was added
gene: KY was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT85 Zornitza Stark gene: KRT85 was added
gene: KRT85 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT8 Zornitza Stark gene: KRT8 was added
gene: KRT8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic, 215600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41, 615637 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KNL1 Zornitza Stark gene: KNL1 was added
gene: KNL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, 604321 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL7 were set to PERCHING syndrome, 617055 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF1C Zornitza Stark gene: KIF1C was added
gene: KIF1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, 611302 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive, 610357 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, 617914 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNV2 Zornitza Stark gene: KCNV2 was added
gene: KCNV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNV2 were set to Retinal cone dystrophy 3B, 610356 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome, 220400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SESAME syndrome, 612780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, 241200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Naxos disease, 601214 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JAM3 Zornitza Stark gene: JAM3 was added
gene: JAM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITPR1 Zornitza Stark gene: ITPR1 was added
gene: ITPR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, 613011 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, 116920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITCH Zornitza Stark gene: ITCH was added
gene: ITCH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5, 609254 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism, 246200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to Opsismodysplasia, 258480 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INPP5K Zornitza Stark gene: INPP5K was added
gene: INPP5K was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IMPG2 Zornitza Stark gene: IMPG2 was added
gene: IMPG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IMPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL7R Zornitza Stark gene: IL7R was added
gene: IL7R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, 612852 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL17RA Zornitza Stark gene: IL17RA was added
gene: IL17RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL17RA were set to Immunodeficiency 51, 613953 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL12RB1 Zornitza Stark gene: IL12RB1 was added
gene: IL12RB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL12RB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL12RB1 were set to Immunodeficiency 30, 614891 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies, 614188 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RA were set to Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IKBKB Zornitza Stark gene: IKBKB was added
gene: IKBKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, 601495 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGFBP7 Zornitza Stark gene: IGFBP7 was added
gene: IGFBP7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGFBP7 were set to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGF1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, 270450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1, 218330 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFNGR2 Zornitza Stark gene: IFNGR2 was added
gene: IFNGR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR2 were set to Immunodeficiency 28, mycobacteriosis, 614889 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFNGR1 Zornitza Stark gene: IFNGR1 was added
gene: IFNGR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, 607014 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, 607594 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IBA57 Zornitza Stark gene: IBA57 was added
gene: IBA57 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Ciliary dyskinesia, primary, 5, 608647 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, 607765 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPSE2 Zornitza Stark gene: HPSE2 was added
gene: HPSE2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPSE2 were set to Urofacial syndrome 1, 236730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPGD Zornitza Stark gene: HPGD was added
gene: HPGD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to Cranioosteoarthropathy, 259100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HMGCS2 Zornitza Stark gene: HMGCS2 was added
gene: HMGCS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HINT1 Zornitza Stark gene: HINT1 was added
gene: HINT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease, 272800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HESX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septooptic dysplasia, 182230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HERC2 were set to Mental retardation, autosomal recessive 38, 615516 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEPACAM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B, 613313 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Fatty liver, acute, of pregnancy, 609016 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HACE1 Zornitza Stark gene: HACE1 was added
gene: HACE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GYS2 Zornitza Stark gene: GYS2 was added
gene: GYS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS2 were set to Glycogen storage disease 0, liver, 240600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUCY2D Zornitza Stark gene: GUCY2D was added
gene: GUCY2D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to Meconium ileus, 614665 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUCY1A3 Zornitza Stark gene: GUCY1A3 was added
gene: GUCY1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia, 615750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23, 616198 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GRM1 Zornitza Stark gene: GRM1 was added
gene: GRM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, 616281 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, 604213 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPR179 Zornitza Stark gene: GPR179 was added
gene: GPR179 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C, 615501 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GOSR2 Zornitza Stark gene: GOSR2 was added
gene: GOSR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, 231070 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, 252605 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta, 252600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy, autosomal recessive, 600737 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNAT2 Zornitza Stark gene: GNAT2 was added
gene: GNAT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNAT2 were set to Achromatopsia-4, 613856 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GM2A Zornitza Stark gene: GM2A was added
gene: GM2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, 272750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLYCTK Zornitza Stark gene: GLYCTK was added
gene: GLYCTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLYCTK were set to D-glyceric aciduria, 220120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease, 301500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GK Zornitza Stark gene: GK was added
gene: GK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GK were set to Glycerol kinase deficiency, 307030 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Hypoplastic left heart syndrome 1, 241550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron dwarfism, 262500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDI1 Zornitza Stark gene: GDI1 was added
gene: GDI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GDI1 were set to Mental retardation, X-linked 41, 300849 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF1 were set to Right atrial isomerism, 208530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, 231670 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAS8 Zornitza Stark gene: GAS8 was added
gene: GAS8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAS8 were set to Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, 256850 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, 612736 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, 245200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II, 232300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FYCO1 Zornitza Stark gene: FYCO1 was added
gene: FYCO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to Cataract 18, autosomal recessive, 610019 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis, 230000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FTSJ1 Zornitza Stark gene: FTSJ1 was added
gene: FTSJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FTO Zornitza Stark gene: FTO was added
gene: FTO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency, 229100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FRRS1L Zornitza Stark gene: FRRS1L was added
gene: FRRS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome, 219000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome, 219000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to Aphakia, congenital primary, 610256 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FMR1 Zornitza Stark gene: FMR1 was added
gene: FMR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FMR1 were set to Fragile X syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLVCR1 Zornitza Stark gene: FLVCR1 was added
gene: FLVCR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome, 272460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKBP14 Zornitza Stark gene: FKBP14 was added
gene: FKBP14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1, 259450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency, 606812 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGG Zornitza Stark gene: FGG was added
gene: FGG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGG were set to Afibrinogenemia, congenital, 202400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGD4 Zornitza Stark gene: FGD4 was added
gene: FGD4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease, type 4H, 609311 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGB Zornitza Stark gene: FGB was added
gene: FGB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGB were set to Afibrinogenemia, congenital, 202400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGA were set to Afibrinogenemia, congenital, 202400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FERMT1 Zornitza Stark gene: FERMT1 was added
gene: FERMT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT1 were set to Kindler syndrome, 173650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBXO7 Zornitza Stark gene: FBXO7 was added
gene: FBXO7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBXL4 Zornitza Stark gene: FBXL4 was added
gene: FBXL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBP1 Zornitza Stark gene: FBP1 was added
gene: FBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, 219100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome, 259775 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAM161A Zornitza Stark gene: FAM161A was added
gene: FAM161A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, 606068 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 612319 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F9 were set to Hemophilia B, 306900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F8 were set to Hemophilia A, 306700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F7 Zornitza Stark gene: F7 was added
gene: F7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F7 were set to Factor VII deficiency, 227500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to Factor V deficiency, 227400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Dysprothrombinemia, 613679 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EXOSC8 Zornitza Stark gene: EXOSC8 was added
gene: EXOSC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, 216400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, 615297 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EML1 Zornitza Stark gene: EML1 was added
gene: EML1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EML1 were set to Band heterotopia, 600348 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ELP2 Zornitza Stark gene: ELP2 was added
gene: ELP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP2 were set to Mental retardation, autosomal recessive 58, 617270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, 300148 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B5 Zornitza Stark gene: EIF2B5 was added
gene: EIF2B5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B4 Zornitza Stark gene: EIF2B4 was added
gene: EIF2B4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2AK4 Zornitza Stark gene: EIF2AK4 was added
gene: EIF2AK4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, 304110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ECEL1 Zornitza Stark gene: ECEL1 was added
gene: ECEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, 615065 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DSTYK Zornitza Stark gene: DSTYK was added
gene: DSTYK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DPH1 Zornitza Stark gene: DPH1 was added
gene: DPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DONSON Zornitza Stark gene: DONSON was added
gene: DONSON was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, 610768 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOCK2 Zornitza Stark gene: DOCK2 was added
gene: DOCK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK2 were set to Immunodeficiency 40, 616433 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC6 Zornitza Stark gene: DNAJC6 was added
gene: DNAJC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18, 614874 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF4 Zornitza Stark gene: DNAAF4 was added
gene: DNAAF4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF4 were set to Ciliary dyskinesia, primary, 25, 615482 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2, 606763 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13, 613193 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DLG3 Zornitza Stark gene: DLG3 was added
gene: DLG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to Miller syndrome, 263750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DGKE Zornitza Stark gene: DGKE was added
gene: DGKE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGKE were set to Nephrotic syndrome, type 7, 615008 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DGAT1 Zornitza Stark gene: DGAT1 was added
gene: DGAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDX11 Zornitza Stark gene: DDX11 was added
gene: DDX11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, 615033 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCDC2 were set to Nephronophthisis 19, 616217 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, 241080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, type II, 248600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP2U1 Zornitza Stark gene: CYP2U1 was added
gene: CYP2U1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP1B1 Zornitza Stark gene: CYP1B1 was added
gene: CYP1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated, 202110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYB5R3 Zornitza Stark gene: CYB5R3 was added
gene: CYB5R3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYB5R3 were set to Methemoglobinemia, type I, 250800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome 1, 273750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis, 265800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSC Zornitza Stark gene: CTSC was added
gene: CTSC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, 245000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis, 256540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, 615897 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic, 219800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII, 610682 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1, 272430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease, 219730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Leber congenital amaurosis 8, 613835 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal, 608836 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, 615573 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, 612016 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, 616276 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, 607426 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2, 265050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica, AR, 226600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL2A1 were set to Otospondylomegaepiphyseal dysplasia, 215150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL27A1 Zornitza Stark gene: COL27A1 was added
gene: COL27A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL27A1 were set to Steel Syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2, 614524 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to Fibrochondrogenesis 1, 228520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe, 608779 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, 616286 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNNM4 Zornitza Stark gene: CNNM4 was added
gene: CNNM4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNNM4 were set to Jalili syndrome, 217080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNGA3 Zornitza Stark gene: CNGA3 was added
gene: CNGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGA3 were set to Achromatopsia-2, 216900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A, 276902 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3, 614129 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLP1 Zornitza Stark gene: CLP1 was added
gene: CLP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, 615803 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal 6, 601780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLMP Zornitza Stark gene: CLMP was added
gene: CLMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLMP were set to Congenital short bowel syndrome, 615237 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLDN10 Zornitza Stark gene: CLDN10 was added
gene: CLDN10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN10 were set to HELIX syndrome, 617671 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLDN1 Zornitza Stark gene: CLDN1 was added
gene: CLDN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, 613090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, 611490 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease, 300009 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN4 Zornitza Stark gene: CLCN4 was added
gene: CLCN4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN4 were set to Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, 615651 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCF1 Zornitza Stark gene: CLCF1 was added
gene: CLCF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCF1 were set to Cold-induced sweating syndrome 2, 610313 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to Filippi syndrome, 272440 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CIT Zornitza Stark gene: CIT was added
gene: CIT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, 617090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2, 604928 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CIITA Zornitza Stark gene: CIITA was added
gene: CIITA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, 605282 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Escobar syndrome, 265000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, 253290 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHM were set to Choroideremia
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, 602541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, 219700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, 312060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy 7, autosomal recessive, 610687 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFI were set to Complement factor I deficiency, 610984 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFD were set to Complement factor D deficiency, 613912 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CERS3 Zornitza Stark gene: CERS3 was added
gene: CERS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP78 Zornitza Stark gene: CEP78 was added
gene: CEP78 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15, 614464 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5, 610188 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome 5, 613823 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Microcephaly 6, primary, autosomal recessive, 608393 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, 613804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, 604804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDK10 Zornitza Stark gene: CDK10 was added
gene: CDK10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome, 617694 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Usher syndrome, type 1D, 601067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDH11 Zornitza Stark gene: CDH11 was added
gene: CDH11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH11 were set to Elsahy-Waters syndrome, 211380 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD81 Zornitza Stark gene: CD81 was added
gene: CD81 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, 613496 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD40 Zornitza Stark gene: CD40 was added
gene: CD40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD3D Zornitza Stark gene: CD3D was added
gene: CD3D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, 615617 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, 615122 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCNO Zornitza Stark gene: CCNO was added
gene: CCNO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCNO were set to Ciliary diskinesia, primary, 29, 615872 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WISP3 Zornitza Stark gene: WISP3 was added
gene: WISP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to Ciliary dyskinesia, primary, 15, 613808 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC115 Zornitza Stark gene: CCDC115 was added
gene: CCDC115 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC114 Zornitza Stark gene: CCDC114 was added
gene: CCDC114 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20, 615067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9, 612285 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CC2D1A Zornitza Stark gene: CC2D1A was added
gene: CC2D1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D1A were set to Mental retardation, autosomal recessive 3, 608443 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, 239200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CARD9 Zornitza Stark gene: CARD9 was added
gene: CARD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARD9 were set to Candidiasis, familial, 2, autosomal recessive, 212050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARD11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARD11 were set to Immunodeficiency 11, 615206 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CAPN3 Zornitza Stark gene: CAPN3 was added
gene: CAPN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia, 251450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CABP4 Zornitza Stark gene: CABP4 was added
gene: CABP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP4 were set to Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to Cone-rod dystrophy 16, 614500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C8B Zornitza Stark gene: C8B was added
gene: C8B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8B were set to C8 deficiency, type II, 613789 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C7 Zornitza Stark gene: C7 was added
gene: C7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C7 were set to C7 deficiency, 610102 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C6 were set to C6 deficiency, 612446 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5 were set to C5 deficiency, 609536 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C3 were set to C3 deficiency, 613779 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C1QC Zornitza Stark gene: C1QC was added
gene: C1QC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QC were set to C1q deficiency, 613652 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C1QB Zornitza Stark gene: C1QB was added
gene: C1QB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QB were set to C1q deficiency, 613652 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C1QA Zornitza Stark gene: C1QA was added
gene: C1QA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QA were set to C1q deficiency, 613652 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C19orf12 Zornitza Stark gene: C19orf12 was added
gene: C19orf12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Combined oxidative phosphorylation deficiency 7, 613559 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BRWD3 Zornitza Stark gene: BRWD3 was added
gene: BRWD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BRF1 Zornitza Stark gene: BRF1 was added
gene: BRF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, 616202 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BRAT1 Zornitza Stark gene: BRAT1 was added
gene: BRAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BMPR1B Zornitza Stark gene: BMPR1B was added
gene: BMPR1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to Diaphanospondylodysostosis, 608022 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome, 210900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BGN Zornitza Stark gene: BGN was added
gene: BGN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCKDK Zornitza Stark gene: BCKDK was added
gene: BCKDK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia, 248600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B4GALNT1 Zornitza Stark gene: B4GALNT1 was added
gene: B4GALNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, 609195 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, 250950 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome 1, 210600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, 211600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP8A2 Zornitza Stark gene: ATP8A2 was added
gene: ATP8A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8A2 were set to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease, 277900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, 309400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness, 267300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATOH7 Zornitza Stark gene: ATOH7 was added
gene: ATOH7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATOH7 were set to Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATF6 Zornitza Stark gene: ATF6 was added
gene: ATF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATF6 were set to Achromatopsia 7, 616517 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATCAY Zornitza Stark gene: ATCAY was added
gene: ATCAY was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type, 601238 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, 215700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASPM Zornitza Stark gene: ASPM was added
gene: ASPM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive, 608716 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease, 271900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASCC1 Zornitza Stark gene: ASCC1 was added
gene: ASCC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASCC1 were set to Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Farber lipogranulomatosis, 228000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Hydranencephaly with abnormal genitalia, 300215 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARV1 Zornitza Stark gene: ARV1 was added
gene: ARV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARV1 were set to Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Ciliary dyskinesia, primary, 23, 615451 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF9 were set to Epileptic encephalopathy, early infantile, 8, 300607 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Argininemia, 207800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, 608097 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP4S1 Zornitza Stark gene: AP4S1 was added
gene: AP4S1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4S1 were set to Spastic paraplegia 52, autosomal recessive, 614067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B2 were set to Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome, 228600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, 230740 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ANKS6 Zornitza Stark gene: ANKS6 was added
gene: ANKS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, 606353 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, 241500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, 608104 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic, 603147 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id, 601110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG2 Zornitza Stark gene: ALG2 was added
gene: ALG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, 607143 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation, type Ip, 613661 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH1A3 Zornitza Stark gene: ALDH1A3 was added
gene: ALDH1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8, 615113 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALAD Zornitza Stark gene: ALAD was added
gene: ALAD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic, 612740 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, 235555 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to Reticular dysgenesis, 267500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to Cone-rod dystrophy, 604393 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, 260600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Cowchock syndrome, 310490 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal tubular dysgenesis, 267430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, 232400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Sengers syndrome, 212350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGBL5 Zornitza Stark gene: AGBL5 was added
gene: AGBL5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, 617023 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADSL Zornitza Stark gene: ADSL was added
gene: ADSL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency, 103050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C, 605472 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAT3 Zornitza Stark gene: ADAT3 was added
gene: ADAT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAT3 were set to Mental retardation, autosomal recessive 36, 615286 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1, 231050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAMTS2 Zornitza Stark gene: ADAMTS2 was added
gene: ADAMTS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, 274150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa, childhood-onset, 615688 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACTA1 were set to Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACSF3 Zornitza Stark gene: ACSF3 was added
gene: ACSF3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria, 614265 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis, 267430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABHD5 Zornitza Stark gene: ABHD5 was added
gene: ABHD5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, 275630 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, 614473 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, 601847 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCA4 Zornitza Stark gene: ABCA4 was added
gene: ABCA4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3, 604116 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABAT were set to GABA-transaminase deficiency, 613163 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 Zornitza Stark Added panel Mackenzie's Mission_Reproductive Carrier Screening
Hereditary Spastic Paraplegia v0.73 SLC19A3 Bryony Thompson reviewed gene: SLC19A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483; Mode of inheritance: None
Hereditary Spastic Paraplegia v0.73 IFRD1 Bryony Thompson reviewed gene: IFRD1: Rating: RED; Mode of pathogenicity: None; Publications: 29362493; Phenotypes: Hereditary spastic paraplegia, peripheral neuropathy, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.73 IFIH1 Bryony Thompson reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25243380, 31427910, 24686847, 24995871; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.73 IBA57 Bryony Thompson Marked gene: IBA57 as ready
Hereditary Spastic Paraplegia v0.73 IBA57 Bryony Thompson Gene: iba57 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.73 IBA57 Bryony Thompson Classified gene: IBA57 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.73 IBA57 Bryony Thompson Gene: iba57 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.72 IBA57 Bryony Thompson gene: IBA57 was added
gene: IBA57 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 25609768; 30258207
Phenotypes for gene: IBA57 were set to Spastic paraplegia 74, autosomal recessive MIM#616451
Review for gene: IBA57 was set to GREEN
Added comment: Three families with spastic paraparesis as a feature of the condition.
Sources: Expert list
Hereditary Spastic Paraplegia v0.71 HARS2 Bryony Thompson reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 2 MIM#614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.71 HACE1 Bryony Thompson reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.71 GCH1 Bryony Thompson Marked gene: GCH1 as ready
Hereditary Spastic Paraplegia v0.71 GCH1 Bryony Thompson Gene: gch1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.71 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.70 GCH1 Bryony Thompson Classified gene: GCH1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.70 GCH1 Bryony Thompson Gene: gch1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.69 GAD1 Bryony Thompson Marked gene: GAD1 as ready
Hereditary Spastic Paraplegia v0.69 GAD1 Bryony Thompson Gene: gad1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.69 GAD1 Bryony Thompson Classified gene: GAD1 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.69 GAD1 Bryony Thompson Gene: gad1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.68 FOXG1 Bryony Thompson Marked gene: FOXG1 as ready
Hereditary Spastic Paraplegia v0.68 FOXG1 Bryony Thompson Gene: foxg1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.68 FOXG1 Bryony Thompson Classified gene: FOXG1 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.68 FOXG1 Bryony Thompson Gene: foxg1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.67 FOXG1 Bryony Thompson reviewed gene: FOXG1: Rating: RED; Mode of pathogenicity: None; Publications: 19578037; Phenotypes: Rett syndrome, congenital variant MIM#613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.67 FARS2 Bryony Thompson reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26553276, 25851414, 29126765; Phenotypes: Spastic paraplegia 77, autosomal recessive MIM#617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.67 EXOSC3 Bryony Thompson reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25149867, 23975261; Phenotypes: Complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.67 RNF170 Bryony Thompson Marked gene: RNF170 as ready
Hereditary Spastic Paraplegia v0.67 RNF170 Bryony Thompson Gene: rnf170 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.67 RNF170 Bryony Thompson Classified gene: RNF170 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.67 RNF170 Bryony Thompson Gene: rnf170 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.66 RNF170 Bryony Thompson gene: RNF170 was added
gene: RNF170 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: RNF170 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF170 were set to 31636353
Phenotypes for gene: RNF170 were set to Hereditary spastic paraplegia
Review for gene: RNF170 was set to GREEN
Added comment: Four families reported with a complicated HSP phenotype.
Sources: Literature
Hereditary Spastic Paraplegia v0.65 ERLIN1 Bryony Thompson Marked gene: ERLIN1 as ready
Hereditary Spastic Paraplegia v0.65 ERLIN1 Bryony Thompson Gene: erlin1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.65 ERLIN1 Bryony Thompson reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Spastic paraplegia 62 MIM#615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.65 ENTPD1 Bryony Thompson reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive MIM#615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2351 CPT1C Bryony Thompson Marked gene: CPT1C as ready
Mendeliome v0.2351 CPT1C Bryony Thompson Gene: cpt1c has been classified as Green List (High Evidence).
Mendeliome v0.2351 CPT1C Bryony Thompson Classified gene: CPT1C as Green List (high evidence)
Mendeliome v0.2351 CPT1C Bryony Thompson Gene: cpt1c has been classified as Green List (High Evidence).
Mendeliome v0.2350 CPT1C Bryony Thompson gene: CPT1C was added
gene: CPT1C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPT1C were set to 25751282; 23973755
Phenotypes for gene: CPT1C were set to Spastic paraplegia 73, autosomal dominant MIM#616282
Review for gene: CPT1C was set to GREEN
Added comment: Two unrelated families dominant HSP and a supportive mouse model.
Sources: Expert list
Hereditary Spastic Paraplegia v0.65 CLPP Bryony Thompson reviewed gene: CLPP: Rating: RED; Mode of pathogenicity: None; Publications: 22037954; Phenotypes: Perrault syndrome 3 MIM#614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Added comment: Comment on list classification: CNVs (duplications) are the only reported cause of this condition, which may not be detected using WES.
Hereditary Spastic Paraplegia v0.64 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.63 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
SV/CNV tags were added to gene: MARS2.
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to 16672289; 22448145
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390
Review for gene: MARS2 was set to GREEN
Added comment: Large duplications identified in 17 French-Canadian families. Spasticity can be present at birth and precede ataxia.
Sources: Expert list
Mendeliome v0.2349 ATP2B4 Bryony Thompson Marked gene: ATP2B4 as ready
Mendeliome v0.2349 ATP2B4 Bryony Thompson Gene: atp2b4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2349 ATP2B4 Bryony Thompson Classified gene: ATP2B4 as Amber List (moderate evidence)
Mendeliome v0.2349 ATP2B4 Bryony Thompson Gene: atp2b4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2348 ATP2B4 Bryony Thompson gene: ATP2B4 was added
gene: ATP2B4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B4 were set to 25119969; 25798335; 29691679
Phenotypes for gene: ATP2B4 were set to Hereditary spastic paraplegia
Review for gene: ATP2B4 was set to AMBER
Added comment: One Chinese family segregating a missense variant with HSP and one HSP case with a assumed de novo nonsense variant. Supporting in vitro functional assays for the missense variant.
Sources: Expert list
Hereditary Spastic Paraplegia v0.62 ATP1A1 Bryony Thompson Deleted their review
Hereditary Spastic Paraplegia v0.62 ATP1A1 Bryony Thompson gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 31705535
Phenotypes for gene: ATP1A1 were set to Hereditary spastic paraplegia
Review for gene: ATP1A1 was set to RED
Added comment: Sources: Literature
Hereditary Spastic Paraplegia v0.61 ARL6IP1 Bryony Thompson reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive 615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.61 ARG1 Bryony Thompson reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29726057; Phenotypes: Argininemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.61 AMPD2 Bryony Thompson Classified gene: AMPD2 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.61 AMPD2 Bryony Thompson Gene: ampd2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.60 AMPD2 Bryony Thompson reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Spastic paraplegia 63 MIM#615686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.60 ALDH3A2 Bryony Thompson Marked gene: ALDH3A2 as ready
Hereditary Spastic Paraplegia v0.60 ALDH3A2 Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.60 ALDH3A2 Bryony Thompson reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528251, 29704247; Phenotypes: Sjogren-Larsson syndrome MIM#270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.436 GMPR Bryony Thompson Classified gene: GMPR as Red List (low evidence)
Mitochondrial disease v0.436 GMPR Bryony Thompson Added comment: Comment on list classification: Insufficient evidence currently.
Mitochondrial disease v0.436 GMPR Bryony Thompson Gene: gmpr has been classified as Red List (Low Evidence).
Mitochondrial disease v0.435 GMPR Bryony Thompson gene: GMPR was added
gene: GMPR was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: GMPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GMPR were set to 31600844
Phenotypes for gene: GMPR were set to progressive external ophthalmoplegia
Review for gene: GMPR was set to AMBER
Added comment: A heterozygous missense was identified in a case with late-onset adPEO and multiple mtDNA deletions in the cases skeletal muscle. GMPR deficiency was confirmed, but marked defects of mtDNA replication or nucleotide homeostasis was not demonstrated in patient cells. No other functional assays conducted.
Sources: Literature
Hydrops fetalis v0.112 PRF1 Tegan French gene: PRF1 was added
gene: PRF1 was added to Hydrops fetalis. Sources: Other
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to PMID: 19595804; 26199792; 30070073
Phenotypes for gene: PRF1 were set to Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2 AR; Lymphoma, non-Hodgkin
Penetrance for gene: PRF1 were set to Complete
Review for gene: PRF1 was set to GREEN
Added comment: Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed)
PMID: 19595804

Vermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period
PMID: 26199792

Iwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites
PMID: 30070073
Sources: Other
Cataract v0.133 LSS Bryony Thompson Classified gene: LSS as Green List (high evidence)
Cataract v0.133 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Cataract v0.132 LSS Bryony Thompson changed review comment from: Three families reported with congenital cataracts with biallelic variants in LSS.
Sources: Literature; to: Three families reported with congenital cataracts with biallelic variants in LSS. Mouse model with cataracts.
Sources: Literature
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Marked gene: LSS as ready
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Classified gene: LSS as Green List (high evidence)
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.22 LSS Bryony Thompson gene: LSS was added
gene: LSS was added to Ectodermal Dysplasia. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320; 32101538
Phenotypes for gene: LSS were set to Alopecia-mental retardation syndrome 4 MIM#618840; Hypotrichosis 14 MIM#618275
Review for gene: LSS was set to GREEN
Added comment: Seven families with biallelic variants with a neuroectordermal syndrome, including alopecia. Mouse model has hypotrichosis cataracts.
Sources: Literature
Cataract v0.132 LSS Bryony Thompson gene: LSS was added
gene: LSS was added to Cataract. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 26200341; 29016354
Phenotypes for gene: LSS were set to Cataract 44 MIM#616509
Review for gene: LSS was set to GREEN
Added comment: Three families reported with congenital cataracts with biallelic variants in LSS.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2526 CACNB4 Bryony Thompson Classified gene: CACNB4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2526 CACNB4 Bryony Thompson Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2525 CACNB4 Bryony Thompson gene: CACNB4 was added
gene: CACNB4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CACNB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNB4 were set to 32176688
Phenotypes for gene: CACNB4 were set to intellectual disability; psychomotor retardation; blindness; epilepsy; movement disorder; cerebellar atrophy
Review for gene: CACNB4 was set to AMBER
Added comment: A homozygous missense variant (Leu126Pro) was identified in two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. In vitro functional assays of the variant identify three potential pathomechanisms: impairs the formation of synaptic P/Q-type calcium channel complexes; prevents activity-dependent nuclear targeting and thus β4-dependent nuclear functions; disturbs complex formation between β4b and the TRAF2 and NCK interacting kinase TNIK.
Sources: Literature
Mitochondrial disease v0.434 CHCHD2 Zornitza Stark Marked gene: CHCHD2 as ready
Mitochondrial disease v0.434 CHCHD2 Zornitza Stark Gene: chchd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 IDH3A Zornitza Stark Marked gene: IDH3A as ready
Mitochondrial disease v0.434 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 PITRM1 Zornitza Stark Marked gene: PITRM1 as ready
Mitochondrial disease v0.434 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Mitochondrial disease v0.434 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 NSUN3 Zornitza Stark Marked gene: NSUN3 as ready
Mitochondrial disease v0.434 NSUN3 Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 OXA1L Zornitza Stark Marked gene: OXA1L as ready
Mitochondrial disease v0.434 OXA1L Zornitza Stark Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 PTCD3 Zornitza Stark Marked gene: PTCD3 as ready
Mitochondrial disease v0.434 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Marked gene: SLC25A10 as ready
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TIMMDC1 Zornitza Stark Marked gene: TIMMDC1 as ready
Mitochondrial disease v0.434 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TIMM22 Zornitza Stark Marked gene: TIMM22 as ready
Mitochondrial disease v0.434 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TMEM65 Zornitza Stark Marked gene: TMEM65 as ready
Mitochondrial disease v0.434 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 USMG5 Zornitza Stark Marked gene: USMG5 as ready
Mitochondrial disease v0.434 USMG5 Zornitza Stark Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Mitochondrial disease v0.434 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 CISD2 Zornitza Stark Classified gene: CISD2 as Green List (high evidence)
Mitochondrial disease v0.434 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.433 COX5A Zornitza Stark Marked gene: COX5A as ready
Mitochondrial disease v0.433 COX5A Zornitza Stark Gene: cox5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.433 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Mitochondrial disease v0.433 KIF5A Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.433 KIF5A Zornitza Stark Classified gene: KIF5A as Red List (low evidence)
Mitochondrial disease v0.433 KIF5A Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.432 KIF5A Zornitza Stark Classified gene: KIF5A as Amber List (moderate evidence)
Mitochondrial disease v0.432 KIF5A Zornitza Stark Gene: kif5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.431 PET117 Zornitza Stark Marked gene: PET117 as ready
Mitochondrial disease v0.431 PET117 Zornitza Stark Gene: pet117 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 PTCD1 Zornitza Stark Marked gene: PTCD1 as ready
Mitochondrial disease v0.431 PTCD1 Zornitza Stark Gene: ptcd1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Marked gene: COX4I1 as ready
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Publications for gene: COX4I1 were set to 28766551
Mitochondrial disease v0.430 COX4I1 Zornitza Stark changed review comment from: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals.; to: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals, i.e. heterozygous in each individual.
Mitochondrial disease v0.430 MT-TS2 Zornitza Stark Tag mtDNA tag was added to gene: MT-TS2.
Mitochondrial disease v0.430 MT-TK Zornitza Stark Tag mtDNA tag was added to gene: MT-TK.
Mitochondrial disease v0.430 MT-TE Zornitza Stark Tag mtDNA tag was added to gene: MT-TE.
Mitochondrial disease v0.430 MT-TC Zornitza Stark Tag mtDNA tag was added to gene: MT-TC.
Mitochondrial disease v0.430 MT-RNR1 Zornitza Stark Tag mtDNA tag was added to gene: MT-RNR1.
Mitochondrial disease v0.430 MT-ND6 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND6.
Mitochondrial disease v0.430 MT-ND4L Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4L.
Mitochondrial disease v0.430 MT-ND2 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND2.
Mitochondrial disease v0.430 MT-ATP8 Zornitza Stark Tag mtDNA tag was added to gene: MT-ATP8.
Mitochondrial disease v0.430 MT-TY Zornitza Stark Marked gene: MT-TY as ready
Mitochondrial disease v0.430 MT-TY Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence).
Mitochondrial disease v0.430 MT-TY Zornitza Stark Tag somatic tag was added to gene: MT-TY.
Tag mtDNA tag was added to gene: MT-TY.
Mitochondrial disease v0.430 MT-TY Zornitza Stark Classified gene: MT-TY as Green List (high evidence)
Mitochondrial disease v0.430 MT-TY Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence).
Mitochondrial disease v0.429 MT-TY Zornitza Stark gene: MT-TY was added
gene: MT-TY was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL
Phenotypes for gene: MT-TY were set to Progressive external ophthalmoplegia; Cardiomyopathy; Myopathy
Review for gene: MT-TY was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.428 MT-TW Zornitza Stark Marked gene: MT-TW as ready
Mitochondrial disease v0.428 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Mitochondrial disease v0.428 MT-TW Zornitza Stark Tag mtDNA tag was added to gene: MT-TW.
Mitochondrial disease v0.428 MT-TW Zornitza Stark Classified gene: MT-TW as Green List (high evidence)
Mitochondrial disease v0.428 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Mitochondrial disease v0.427 MT-TW Zornitza Stark gene: MT-TW was added
gene: MT-TW was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL
Phenotypes for gene: MT-TW were set to Encephalomyopathy
Review for gene: MT-TW was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.426 MT-TV Zornitza Stark Tag mtDNA tag was added to gene: MT-TV.
Mitochondrial disease v0.426 MT-TV Zornitza Stark Marked gene: MT-TV as ready
Mitochondrial disease v0.426 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Mitochondrial disease v0.426 MT-TV Zornitza Stark Classified gene: MT-TV as Green List (high evidence)
Mitochondrial disease v0.426 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Mitochondrial disease v0.425 MT-TV Zornitza Stark gene: MT-TV was added
gene: MT-TV was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Phenotypes for gene: MT-TV were set to Ataxia; Seizures; Deafness
Review for gene: MT-TV was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.424 MT-TT Zornitza Stark Marked gene: MT-TT as ready
Mitochondrial disease v0.424 MT-TT Zornitza Stark Gene: mt-tt has been classified as Red List (Low Evidence).
Mitochondrial disease v0.424 MT-TT Zornitza Stark Tag mtDNA tag was added to gene: MT-TT.
Mitochondrial disease v0.424 MT-TT Zornitza Stark gene: MT-TT was added
gene: MT-TT was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL
Review for gene: MT-TT was set to RED
Added comment: Sources: Expert list
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Marked gene: MT-TS2 as ready
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Classified gene: MT-TS2 as Green List (high evidence)
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.422 MT-TS2 Zornitza Stark gene: MT-TS2 was added
gene: MT-TS2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TS2 were set to MERRF; MELAS; Cerebellar ataxia
Review for gene: MT-TS2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Marked gene: MT-TS1 as ready
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Tag mtDNA tag was added to gene: MT-TS1.
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Classified gene: MT-TS1 as Green List (high evidence)
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.420 MT-TS1 Zornitza Stark gene: MT-TS1 was added
gene: MT-TS1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TS1 were set to MERRF; MELAS; Deafness
Review for gene: MT-TS1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.419 MT-TR Zornitza Stark Marked gene: MT-TR as ready
Mitochondrial disease v0.419 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Mitochondrial disease v0.419 MT-TR Zornitza Stark Tag mtDNA tag was added to gene: MT-TR.
Mitochondrial disease v0.419 MT-TR Zornitza Stark Classified gene: MT-TR as Green List (high evidence)
Mitochondrial disease v0.419 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Mitochondrial disease v0.418 MT-TR Zornitza Stark gene: MT-TR was added
gene: MT-TR was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL
Phenotypes for gene: MT-TR were set to Encephalomyopathy
Review for gene: MT-TR was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Marked gene: MT-TQ as ready
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence).
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Tag mtDNA tag was added to gene: MT-TQ.
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Classified gene: MT-TQ as Green List (high evidence)
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence).
Mitochondrial disease v0.416 MT-TQ Zornitza Stark gene: MT-TQ was added
gene: MT-TQ was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL
Phenotypes for gene: MT-TQ were set to MELAS; deafness; mitochondrial myopathy
Review for gene: MT-TQ was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.415 MT-TP Zornitza Stark Marked gene: MT-TP as ready
Mitochondrial disease v0.415 MT-TP Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence).
Mitochondrial disease v0.415 MT-TP Zornitza Stark Tag mtDNA tag was added to gene: MT-TP.
Mitochondrial disease v0.415 MT-TP Zornitza Stark Classified gene: MT-TP as Green List (high evidence)
Mitochondrial disease v0.415 MT-TP Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence).
Mitochondrial disease v0.414 MT-TP Zornitza Stark gene: MT-TP was added
gene: MT-TP was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Phenotypes for gene: MT-TP were set to MERRF; myopathy
Review for gene: MT-TP was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.413 MT-TN Zornitza Stark Marked gene: MT-TN as ready
Mitochondrial disease v0.413 MT-TN Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence).
Mitochondrial disease v0.413 MT-TN Zornitza Stark Classified gene: MT-TN as Green List (high evidence)
Mitochondrial disease v0.413 MT-TN Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence).
Mitochondrial disease v0.412 MT-TN Zornitza Stark gene: MT-TN was added
gene: MT-TN was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL
Phenotypes for gene: MT-TN were set to Mitochondrial myopathy
Review for gene: MT-TN was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.411 MT-TM Zornitza Stark Marked gene: MT-TM as ready
Mitochondrial disease v0.411 MT-TM Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence).
Mitochondrial disease v0.411 MT-TM Zornitza Stark Tag mtDNA tag was added to gene: MT-TM.
Mitochondrial disease v0.411 MT-TM Zornitza Stark Classified gene: MT-TM as Green List (high evidence)
Mitochondrial disease v0.411 MT-TM Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence).
Mitochondrial disease v0.410 MT-TM Zornitza Stark gene: MT-TM was added
gene: MT-TM was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL
Phenotypes for gene: MT-TM were set to Mitochondrial myopathy
Review for gene: MT-TM was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Marked gene: MT-TL2 as ready
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Tag mtDNA tag was added to gene: MT-TL2.
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Classified gene: MT-TL2 as Green List (high evidence)
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.408 MT-TL2 Zornitza Stark gene: MT-TL2 was added
gene: MT-TL2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL2 were set to Myopathy; Cardiomyopathy; Encephalomyopathy
Review for gene: MT-TL2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Marked gene: MT-TL1 as ready
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Tag mtDNA tag was added to gene: MT-TL1.
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Classified gene: MT-TL1 as Green List (high evidence)
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.406 MT-TL1 Zornitza Stark gene: MT-TL1 was added
gene: MT-TL1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to MELAS
Review for gene: MT-TL1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.405 MT-TK Zornitza Stark Marked gene: MT-TK as ready
Mitochondrial disease v0.405 MT-TK Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence).
Mitochondrial disease v0.405 MT-TK Zornitza Stark Classified gene: MT-TK as Green List (high evidence)
Mitochondrial disease v0.405 MT-TK Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence).
Mitochondrial disease v0.404 MT-TK Zornitza Stark gene: MT-TK was added
gene: MT-TK was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL
Phenotypes for gene: MT-TK were set to MERRF; Encephalopathy; Deafness; Cardiomyopathy
Review for gene: MT-TK was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.403 MT-TI Zornitza Stark Marked gene: MT-TI as ready
Mitochondrial disease v0.403 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Mitochondrial disease v0.403 MT-TI Zornitza Stark Tag mtDNA tag was added to gene: MT-TI.
Mitochondrial disease v0.403 MT-TI Zornitza Stark Classified gene: MT-TI as Green List (high evidence)
Mitochondrial disease v0.403 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Mitochondrial disease v0.402 MT-TI Zornitza Stark gene: MT-TI was added
gene: MT-TI was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Phenotypes for gene: MT-TI were set to Mitochondrial myopathy; Encephalopathy
Review for gene: MT-TI was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.401 MT-TH Zornitza Stark Tag mtDNA tag was added to gene: MT-TH.
Mitochondrial disease v0.401 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Mitochondrial disease v0.401 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Mitochondrial disease v0.401 MT-TH Zornitza Stark Classified gene: MT-TH as Green List (high evidence)
Mitochondrial disease v0.401 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Mitochondrial disease v0.400 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Phenotypes for gene: MT-TH were set to Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF
Review for gene: MT-TH was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.399 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Mitochondrial disease v0.399 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Mitochondrial disease v0.399 MT-TG Zornitza Stark Tag mtDNA tag was added to gene: MT-TG.
Mitochondrial disease v0.399 MT-TG Zornitza Stark Classified gene: MT-TG as Green List (high evidence)
Mitochondrial disease v0.399 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Mitochondrial disease v0.398 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Phenotypes for gene: MT-TG were set to Cardiomyopathy
Review for gene: MT-TG was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.397 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Mitochondrial disease v0.397 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Mitochondrial disease v0.397 MT-TF Zornitza Stark Tag mtDNA tag was added to gene: MT-TF.
Mitochondrial disease v0.397 MT-TF Zornitza Stark Classified gene: MT-TF as Green List (high evidence)
Mitochondrial disease v0.397 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Mitochondrial disease v0.396 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Phenotypes for gene: MT-TF were set to MELAS; MERFF; Encephalopathy; Myopathy
Review for gene: MT-TF was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.395 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Mitochondrial disease v0.395 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Mitochondrial disease v0.395 MT-TE Zornitza Stark Classified gene: MT-TE as Green List (high evidence)
Mitochondrial disease v0.395 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Mitochondrial disease v0.394 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Phenotypes for gene: MT-TE were set to Mitochondrial myopathy; Deafness; Diabetes
Review for gene: MT-TE was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.393 MT-TD Zornitza Stark Marked gene: MT-TD as ready
Mitochondrial disease v0.393 MT-TD Zornitza Stark Gene: mt-td has been classified as Green List (High Evidence).
Mitochondrial disease v0.393 MT-TD Zornitza Stark Tag mtDNA tag was added to gene: MT-TD.
Mitochondrial disease v0.393 MT-TD Zornitza Stark Classified gene: MT-TD as Green List (high evidence)
Mitochondrial disease v0.393 MT-TD Zornitza Stark Gene: mt-td has been classified as Green List (High Evidence).
Mitochondrial disease v0.392 MT-TD Zornitza Stark gene: MT-TD was added
gene: MT-TD was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL
Phenotypes for gene: MT-TD were set to Mitochondrial myopathy
Review for gene: MT-TD was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.391 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Mitochondrial disease v0.391 MT-TC Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence).
Mitochondrial disease v0.391 MT-TC Zornitza Stark Classified gene: MT-TC as Green List (high evidence)
Mitochondrial disease v0.391 MT-TC Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence).
Mitochondrial disease v0.390 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Phenotypes for gene: MT-TC were set to MELAS; Dystonia
Review for gene: MT-TC was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.389 MT-TA Zornitza Stark Marked gene: MT-TA as ready
Mitochondrial disease v0.389 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Mitochondrial disease v0.389 MT-TA Zornitza Stark Tag mtDNA tag was added to gene: MT-TA.
Mitochondrial disease v0.389 MT-TA Zornitza Stark Classified gene: MT-TA as Green List (high evidence)
Mitochondrial disease v0.389 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Mitochondrial disease v0.388 MT-TA Zornitza Stark gene: MT-TA was added
gene: MT-TA was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Phenotypes for gene: MT-TA were set to Mitochondrial myopathy
Review for gene: MT-TA was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.386 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Deafness; Cardiomyopathy
Review for gene: MT-RNR1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Marked gene: MT-ND6 as ready
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Classified gene: MT-ND6 as Green List (high evidence)
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.384 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Mitochondrial cardiomyopathy complex I deficiency; Leber's optic neuropathy; MELAS; Dystonia; Striatal necrosis, bilateral
Review for gene: MT-ND6 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND5.
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Marked gene: MT-ND5 as ready
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Classified gene: MT-ND5 as Green List (high evidence)
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.382 MT-ND5 Zornitza Stark gene: MT-ND5 was added
gene: MT-ND5 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND5 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; MERFF
Review for gene: MT-ND5 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Marked gene: MT-ND4L as ready
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence).
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Classified gene: MT-ND4L as Green List (high evidence)
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence).
Mitochondrial disease v0.380 MT-ND4L Zornitza Stark gene: MT-ND4L was added
gene: MT-ND4L was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4L were set to Leber's optic atrophy
Review for gene: MT-ND4L was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4.
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Classified gene: MT-ND4 as Green List (high evidence)
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.378 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia
Review for gene: MT-ND4 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND3.
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Marked gene: MT-ND3 as ready
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Classified gene: MT-ND3 as Green List (high evidence)
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.376 MT-ND3 Zornitza Stark gene: MT-ND3 was added
gene: MT-ND3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND3 were set to Complex I deficiency
Review for gene: MT-ND3 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Marked gene: MT-ND2 as ready
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Classified gene: MT-ND2 as Green List (high evidence)
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.374 MT-ND2 Zornitza Stark gene: MT-ND2 was added
gene: MT-ND2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND2 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy
Review for gene: MT-ND2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Marked gene: MT-ND1 as ready
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND1.
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Classified gene: MT-ND1 as Green List (high evidence)
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.372 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia
Review for gene: MT-ND1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Tag mtDNA tag was added to gene: MT-CYB.
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Marked gene: MT-CYB as ready
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Classified gene: MT-CYB as Green List (high evidence)
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Mitochondrial disease v0.370 MT-CYB Zornitza Stark gene: MT-CYB was added
gene: MT-CYB was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Phenotypes for gene: MT-CYB were set to Leber's optic atrophy; Encephalomyopathy; Cardiomyopathy
Review for gene: MT-CYB was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO2.
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Classified gene: MT-CO2 as Green List (high evidence)
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.368 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO2 were set to Cytochrome c oxidase deficiency
Review for gene: MT-CO2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO1.
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Classified gene: MT-CO1 as Green List (high evidence)
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.366 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO1 were set to Leber's optic atrophy; Sideroblastic anaemia; Cytochrome c oxidase deficiency; Myoglobinuria
Review for gene: MT-CO1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Marked gene: MT-ATP8 as ready
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Classified gene: MT-ATP8 as Green List (high evidence)
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.364 MT-ATP8 Zornitza Stark gene: MT-ATP8 was added
gene: MT-ATP8 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP8 were set to Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Review for gene: MT-ATP8 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Tag mtDNA tag was added to gene: MT-ATP6.
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Classified gene: MT-ATP6 as Green List (high evidence)
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.362 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency
Review for gene: MT-ATP6 was set to GREEN
Added comment: Sources: Expert list
Hereditary Spastic Paraplegia v0.60 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Hereditary Spastic Paraplegia v0.60 ACOX1 Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.60 ACOX1 Zornitza Stark Publications for gene: ACOX1 were set to
Hereditary Spastic Paraplegia v0.59 ARSI Zornitza Stark Marked gene: ARSI as ready
Hereditary Spastic Paraplegia v0.59 ARSI Zornitza Stark Gene: arsi has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.59 CCT5 Zornitza Stark Marked gene: CCT5 as ready
Hereditary Spastic Paraplegia v0.59 CCT5 Zornitza Stark Gene: cct5 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.59 KLC2 Zornitza Stark Marked gene: KLC2 as ready
Hereditary Spastic Paraplegia v0.59 KLC2 Zornitza Stark Gene: klc2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.59 ZFYVE26 Zornitza Stark Marked gene: ZFYVE26 as ready
Hereditary Spastic Paraplegia v0.59 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.59 ZFYVE26 Zornitza Stark Classified gene: ZFYVE26 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.59 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.58 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, MIM# 270700
Review for gene: ZFYVE26 was set to GREEN
Added comment: Complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable intellectual disability, hearing and visual defects, and thin corpus callosum. Late childhood onset reported.
Sources: Expert list
Hereditary Spastic Paraplegia v0.57 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Hereditary Spastic Paraplegia v0.57 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.57 VAMP1 Zornitza Stark Classified gene: VAMP1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.57 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.56 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, MIM# 108600
Review for gene: VAMP1 was set to GREEN
Added comment: Spasticity is a prominent feature of this condition.
Sources: Expert list
Hereditary Spastic Paraplegia v0.55 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Hereditary Spastic Paraplegia v0.55 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.55 SPG7 Zornitza Stark Classified gene: SPG7 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.55 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.54 SPG7 Zornitza Stark gene: SPG7 was added
gene: SPG7 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 22571692
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, MIM# 607259
Review for gene: SPG7 was set to GREEN
Added comment: Typical onset is in adulthood, but some individuals with late childhood onset reported. Most affected individuals have had bi-allelic variants; some reports of mono-allelic variants.
Sources: Expert list
Hereditary Spastic Paraplegia v0.53 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Hereditary Spastic Paraplegia v0.53 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.53 SPG11 Zornitza Stark Classified gene: SPG11 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.53 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.52 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 18067136
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM# 604360
Review for gene: SPG11 was set to GREEN
Added comment: ID, thin corpus callosum, neuropathy reported in some individuals.
Sources: Expert list
Hereditary Spastic Paraplegia v0.51 SPAST Zornitza Stark Marked gene: SPAST as ready
Hereditary Spastic Paraplegia v0.51 SPAST Zornitza Stark Gene: spast has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.51 SPAST Zornitza Stark Classified gene: SPAST as Green List (high evidence)
Hereditary Spastic Paraplegia v0.51 SPAST Zornitza Stark Gene: spast has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.50 SPAST Zornitza Stark gene: SPAST was added
gene: SPAST was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, MIM# 182601
Review for gene: SPAST was set to GREEN
Added comment: Wide variation in age of onset, but onset as early as infancy reported.
Sources: Expert list
Hereditary Spastic Paraplegia v0.49 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Hereditary Spastic Paraplegia v0.49 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.49 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC33A1 were set to 19061983; 20461110
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant, MIM# 612539
Review for gene: SLC33A1 was set to RED
Added comment: Single large multi-generational family reported, age of onset varied from 4 to 42 years. Bi-allelic variants in this gene cause a severe neurodegenerative phenotype.
Sources: Expert list
Hereditary Spastic Paraplegia v0.48 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Hereditary Spastic Paraplegia v0.48 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.48 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures to Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals
Hereditary Spastic Paraplegia v0.47 SELENOI Zornitza Stark Classified gene: SELENOI as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.47 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.46 SELENOI Zornitza Stark reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917, 29500230; Phenotypes: Spastic paraplegia 81, autosomal recessive 618768, developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.46 SACS Zornitza Stark Marked gene: SACS as ready
Hereditary Spastic Paraplegia v0.46 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.46 SACS Zornitza Stark Classified gene: SACS as Green List (high evidence)
Hereditary Spastic Paraplegia v0.46 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.45 SACS Zornitza Stark edited their review of gene: SACS: Changed phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Hereditary Spastic Paraplegia v0.45 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, MIM@ 270550
Review for gene: SACS was set to GREEN
Added comment: Complex neurological phenotype but spasticity is prominent.
Sources: Expert list
Hereditary Spastic Paraplegia v0.44 REEP1 Zornitza Stark Marked gene: REEP1 as ready
Hereditary Spastic Paraplegia v0.44 REEP1 Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.44 REEP1 Zornitza Stark Classified gene: REEP1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.44 REEP1 Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.43 REEP1 Zornitza Stark gene: REEP1 was added
gene: REEP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REEP1 were set to 16826527; 19034539
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant, MIM# 610250
Review for gene: REEP1 was set to GREEN
Added comment: Gene also causes a neuropathy, and the two manifestations may represent a spectrum of disease. Age of onset highly variable, but onset in late childhood described.
Sources: Expert list
Hereditary Spastic Paraplegia v0.42 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Hereditary Spastic Paraplegia v0.42 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.42 PLP1 Zornitza Stark Classified gene: PLP1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.42 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.41 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLP1 were set to 15627202; 8012387
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked, MIM# 312920
Review for gene: PLP1 was set to GREEN
Added comment: Allelic disorder to Pelizaeus-Merzbacher disease.
Sources: Expert list
Hereditary Spastic Paraplegia v0.40 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hereditary Spastic Paraplegia v0.39 NIPA1 Zornitza Stark Marked gene: NIPA1 as ready
Hereditary Spastic Paraplegia v0.39 NIPA1 Zornitza Stark Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.39 NIPA1 Zornitza Stark Classified gene: NIPA1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.39 NIPA1 Zornitza Stark Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.38 NIPA1 Zornitza Stark gene: NIPA1 was added
gene: NIPA1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NIPA1 were set to 14508710; 15711826
Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6, autosomal dominant, MIM# 600363
Review for gene: NIPA1 was set to GREEN
Added comment: Onset typically in second/third decade, but onset in late childhood also reported.
Sources: Expert list
Hereditary Spastic Paraplegia v0.37 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Hereditary Spastic Paraplegia v0.37 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.37 KIF5A Zornitza Stark Classified gene: KIF5A as Green List (high evidence)
Hereditary Spastic Paraplegia v0.37 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.36 KIF5A Zornitza Stark gene: KIF5A was added
gene: KIF5A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 16489470; 21623771; 15452312; 18853458; 16476820
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant, MIM# 604187
Review for gene: KIF5A was set to GREEN
Added comment: Highly variable phenotype: some individuals have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some individuals show distal sensory impairment, which can be part of the 'pure' phenotype. However, some individuals also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of CMT. Rarely, individuals with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation likely represent extreme ends of the phenotypic spectrum of KIF5A mutations.
Sources: Expert list
Hereditary Spastic Paraplegia v0.35 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Hereditary Spastic Paraplegia v0.35 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.35 KIF1A Zornitza Stark Classified gene: KIF1A as Green List (high evidence)
Hereditary Spastic Paraplegia v0.35 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.34 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 26410750; 21487076; 22258533; 32096284; 31488895; 29159194; 25585697
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, MIM# 610357
Review for gene: KIF1A was set to GREEN
Added comment: Spastic paraplegia-30 (SPG30) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Some patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes cognitive dysfunction, learning disabilities, or behavioral abnormalities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy with thin corpus callosum on brain imaging. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system.
Mono-allelic and bi-allelic variants can both cause HSP, multiple families reported with both.
Sources: Expert list
Hereditary Spastic Paraplegia v0.33 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Hereditary Spastic Paraplegia v0.33 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.33 HSPD1 Zornitza Stark Classified gene: HSPD1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.33 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.32 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, MIM# 612233; Spastic paraplegia 13, autosomal dominant, MIM# 605280
Review for gene: HSPD1 was set to GREEN
Added comment: Bi-allelic variants cause a paediatric-onset leukodystrophy, with spasticity as a feature. Mono-allelic variants have been associated with adult-onset HSP.
Sources: Expert list
Hereditary Spastic Paraplegia v0.31 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Hereditary Spastic Paraplegia v0.31 GJC2 Zornitza Stark Gene: gjc2 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.31 GJC2 Zornitza Stark Classified gene: GJC2 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.31 GJC2 Zornitza Stark Gene: gjc2 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.30 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to 19056803; 31431325; 25059390
Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive, MIM# 613206
Review for gene: GJC2 was set to AMBER
Added comment: Bi-allelic variants in GJC2 are associated with severe infantile-onset hypomyelinating leukodystrophy. One family reported with a milder phenotype, where spasticity was prominent. Onset of symptoms was in late childhood, with more marked progression in the third decade. Another family reported with an ataxia-predominant phenotype, and another with subclinical leukodystrophy. Hence the link between this gene and isolated HSP is not fully established at this stage.
Sources: Expert list
Hereditary Spastic Paraplegia v0.29 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Hereditary Spastic Paraplegia v0.29 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.29 GBA2 Zornitza Stark Classified gene: GBA2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.29 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.28 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to 23332916; 23332917
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, MIM# 614409
Review for gene: GBA2 was set to GREEN
Added comment: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.
Sources: Expert list
Hereditary Spastic Paraplegia v0.27 FA2H Zornitza Stark Marked gene: FA2H as ready
Hereditary Spastic Paraplegia v0.27 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.27 FA2H Zornitza Stark Classified gene: FA2H as Green List (high evidence)
Hereditary Spastic Paraplegia v0.27 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.26 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 20104589; 23745665; 19068277; 20853438; 22146942
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM# 612319
Review for gene: FA2H was set to GREEN
Added comment: Complex form of HSP characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. In addition, some indviduals have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA).
Sources: Expert list
Early-onset Parkinson disease v0.30 HTT Bryony Thompson Classified gene: HTT as Green List (high evidence)
Early-onset Parkinson disease v0.30 HTT Bryony Thompson Gene: htt has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.25 ERLIN2 Zornitza Stark Marked gene: ERLIN2 as ready
Hereditary Spastic Paraplegia v0.25 ERLIN2 Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.25 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia 18, autosomal recessive, MIM# 611225 to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia, dominant
Hereditary Spastic Paraplegia v0.24 ERLIN2 Zornitza Stark Classified gene: ERLIN2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.24 ERLIN2 Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.23 ERLIN2 Zornitza Stark gene: ERLIN2 was added
gene: ERLIN2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to 23109145; 21330303; 32094424; 29528531
Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, MIM# 611225
Review for gene: ERLIN2 was set to GREEN
Added comment: B-allelic variants: early onset complex HSP, including ID and contractures. Mono-allelic variants reported with isolated HSP, variable age of onset including childhood.
Sources: Expert list
Hereditary Spastic Paraplegia v0.22 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Hereditary Spastic Paraplegia v0.22 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.22 ELOVL1 Zornitza Stark Classified gene: ELOVL1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.22 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.21 ELOVL1 Zornitza Stark gene: ELOVL1 was added
gene: ELOVL1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELOVL1 were set to 29496980; 32123819; 30487246
Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527
Review for gene: ELOVL1 was set to GREEN
Added comment: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism.

Same two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model.
Sources: Expert list
Hereditary Spastic Paraplegia v0.20 DDHD2 Zornitza Stark Marked gene: DDHD2 as ready
Hereditary Spastic Paraplegia v0.20 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.20 DDHD2 Zornitza Stark Classified gene: DDHD2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.20 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.19 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to 23486545; 24482476; 23176823
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, MIM# 615033
Review for gene: DDHD2 was set to GREEN
Added comment: At least 7 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak.
Sources: Expert list
Hereditary Spastic Paraplegia v0.18 DDHD1 Zornitza Stark Marked gene: DDHD1 as ready
Hereditary Spastic Paraplegia v0.18 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.18 DDHD1 Zornitza Stark Classified gene: DDHD1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.18 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.17 DDHD1 Zornitza Stark gene: DDHD1 was added
gene: DDHD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to 23176821
Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive, MIM# 609340
Review for gene: DDHD1 was set to GREEN
Added comment: At least three unrelated families reported, childhood onset.
Sources: Expert list
Hereditary Spastic Paraplegia v0.16 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Hereditary Spastic Paraplegia v0.16 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.16 CYP7B1 Zornitza Stark Classified gene: CYP7B1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.16 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.15 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 19439420; 18252231
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Review for gene: CYP7B1 was set to GREEN
Added comment: Some individuals have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia. Onset highly variable, but childhood onset described in multiple individuals.
Sources: Expert list
Early-onset Dementia v0.47 ATN1 Bryony Thompson Classified gene: ATN1 as Green List (high evidence)
Early-onset Dementia v0.47 ATN1 Bryony Thompson Added comment: Comment on list classification: Note: trinucleotide repeat is the only cause of dementia for this gene. STRs are currently not detectable in WES/WGS technologies.
Early-onset Dementia v0.47 ATN1 Bryony Thompson Gene: atn1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.46 ATN1 Bryony Thompson Deleted their comment
Early-onset Dementia v0.46 ATN1 Bryony Thompson Classified gene: ATN1 as Green List (high evidence)
Early-onset Dementia v0.46 ATN1 Bryony Thompson Added comment: Comment on list classification: STR only cause of dementia for this gene
Early-onset Dementia v0.46 ATN1 Bryony Thompson Gene: atn1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.45 ATN1 Bryony Thompson gene: ATN1 was added
gene: ATN1 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 7633415
Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Mode of pathogenicity for gene: ATN1 was set to Other
Review for gene: ATN1 was set to GREEN
Added comment: DRPLA contains various combinations of myoclonus, seizures, ataxia, choreoathetosis, and dementia, and is only caused by trinucleotide repeat expansion. Mean age of onset is 30 years of age. From OMIM: In 22 patients unstable expansion of a CAG unit in the DRPLA gene was identified. Each patient was a heterozygote with 1 allele in the normal range (8-25 repeat units) and a second expanded allele with the range of 54-68 repeat units. There were no overlaps in the number of CAG repeat units between control chromosomes and DRPLA chromosomes.
Sources: Expert list
Ataxia v0.209 ABHD12 Zornitza Stark Marked gene: ABHD12 as ready
Ataxia v0.209 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence).
Ataxia v0.209 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Ataxia v0.209 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Ataxia v0.209 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration to Infantile cerebellar-retinal degeneration, MIM#614559
Ataxia v0.208 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Ataxia v0.208 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Ataxia v0.208 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Ataxia v0.208 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Ataxia v0.208 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Ataxia v0.208 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Ataxia v0.208 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Ataxia v0.207 ANO10 Zornitza Stark Marked gene: ANO10 as ready
Ataxia v0.207 ANO10 Zornitza Stark Gene: ano10 has been classified as Green List (High Evidence).
Ataxia v0.207 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Ataxia v0.207 ARMC9 Zornitza Stark Gene: armc9 has been classified as Red List (Low Evidence).
Ataxia v0.207 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30 to Joubert syndrome 30, MIM#617622
Ataxia v0.206 ARMC9 Zornitza Stark Classified gene: ARMC9 as Red List (low evidence)
Ataxia v0.206 ARMC9 Zornitza Stark Gene: armc9 has been classified as Red List (Low Evidence).
Ataxia v0.205 ARSA Zornitza Stark Marked gene: ARSA as ready
Ataxia v0.205 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Ataxia v0.205 ATP8A2 Zornitza Stark Marked gene: ATP8A2 as ready
Ataxia v0.205 ATP8A2 Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence).
Ataxia v0.205 ATP8A2 Zornitza Stark Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Ataxia v0.204 ATP8A2 Zornitza Stark Publications for gene: ATP8A2 were set to
Ataxia v0.203 CA8 Zornitza Stark Marked gene: CA8 as ready
Ataxia v0.203 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Ataxia v0.203 CA8 Zornitza Stark Publications for gene: CA8 were set to
Ataxia v0.202 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Ataxia v0.202 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
Ataxia v0.202 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Ataxia v0.201 DOCK3 Zornitza Stark Marked gene: DOCK3 as ready
Ataxia v0.201 DOCK3 Zornitza Stark Gene: dock3 has been classified as Green List (High Evidence).
Ataxia v0.201 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Ataxia v0.201 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Ataxia v0.201 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
Ataxia v0.200 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Ataxia v0.200 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Ataxia v0.200 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Ataxia v0.199 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from to Other
Ataxia v0.198 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Ataxia v0.198 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Ataxia v0.198 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Ataxia v0.197 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Ataxia v0.197 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Ataxia v0.197 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Ataxia v0.197 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Ataxia v0.197 MAPK8IP3 Zornitza Stark Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies to Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Ataxia v0.196 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to
Ataxia v0.195 MVK Zornitza Stark Marked gene: MVK as ready
Ataxia v0.195 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Ataxia v0.195 MVK Zornitza Stark Publications for gene: MVK were set to
Ataxia v0.194 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Ataxia v0.194 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Ataxia v0.194 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Ataxia v0.193 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Ataxia v0.193 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Ataxia v0.193 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Ataxia v0.193 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Ataxia v0.193 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Ataxia v0.192 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Ataxia v0.192 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Ataxia v0.192 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Ataxia v0.192 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Ataxia v0.192 PNKD Zornitza Stark Marked gene: PNKD as ready
Ataxia v0.192 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Ataxia v0.192 PNKP Zornitza Stark Marked gene: PNKP as ready
Ataxia v0.192 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Ataxia v0.192 PNKP Zornitza Stark Publications for gene: PNKP were set to
Ataxia v0.191 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Ataxia v0.191 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Ataxia v0.191 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Ataxia v0.191 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Green List (High Evidence).
Ataxia v0.191 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Ataxia v0.191 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Ataxia v0.191 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Ataxia v0.191 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Ataxia v0.191 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Ataxia v0.191 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Ataxia v0.191 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Ataxia v0.191 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Ataxia v0.191 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Ataxia v0.191 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Ataxia v0.191 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Ataxia v0.191 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Ataxia v0.191 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Ataxia v0.191 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Ataxia v0.191 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Ataxia v0.190 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Ataxia v0.190 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Ataxia v0.190 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1, 222300 to Wolfram syndrome 1, 222300
Ataxia v0.189 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Ataxia v0.188 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Ataxia v0.188 MTPAP Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence).
Ataxia v0.188 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Ataxia v0.188 UBR4 Zornitza Stark Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Ataxia v0.188 UBR4 Zornitza Stark Publications for gene: UBR4 were set to 23982692
Ataxia v0.187 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Ataxia v0.187 BBS10 Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Ataxia v0.187 BBS12 Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Ataxia v0.187 BBS2 Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Ataxia v0.187 BBS4 Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Ataxia v0.187 BBS5 Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Ataxia v0.187 BBS7 Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence).
Ataxia v0.187 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Ataxia v0.187 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Red List (Low Evidence).
Ataxia v0.187 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Ataxia v0.187 BBS9 Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence).
Ataxia v0.187 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Ataxia v0.187 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Red List (Low Evidence).
Ataxia v0.187 PCYT2 Zornitza Stark Marked gene: PCYT2 as ready
Ataxia v0.187 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Red List (Low Evidence).
Ataxia v0.187 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Ataxia v0.187 SAR1B Zornitza Stark Gene: sar1b has been classified as Red List (Low Evidence).
Ataxia v0.187 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Ataxia v0.187 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Ataxia v0.187 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Ataxia v0.187 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Red List (Low Evidence).
Ataxia v0.187 ZNF592 Zornitza Stark Marked gene: ZNF592 as ready
Ataxia v0.187 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Ataxia v0.187 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Ataxia v0.187 TTC8 Zornitza Stark Gene: ttc8 has been classified as Red List (Low Evidence).
Ataxia v0.187 AAAS Zornitza Stark Marked gene: AAAS as ready
Ataxia v0.187 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Ataxia v0.187 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Ataxia v0.187 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Ataxia v0.187 RUBCN Zornitza Stark Marked gene: RUBCN as ready
Ataxia v0.187 RUBCN Zornitza Stark Gene: rubcn has been classified as Green List (High Evidence).
Ataxia v0.187 RUBCN Zornitza Stark Phenotypes for gene: RUBCN were changed from ?Spinocerebellar ataxia, autosomal recessive 15 to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Ataxia v0.186 SVBP Zornitza Stark Marked gene: SVBP as ready
Ataxia v0.186 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Ataxia v0.186 SVBP Zornitza Stark Publications for gene: SVBP were set to
Ataxia v0.185 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Ataxia v0.185 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Amber List (Moderate Evidence).
Ataxia v0.185 KCNQ2 Zornitza Stark Publications for gene: KCNQ2 were set to
Ataxia v0.184 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Ataxia v0.184 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Ataxia v0.184 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from BIALLELIC, autosomal or pseudoautosomal to Other
Ataxia v0.183 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Ataxia v0.183 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Ataxia v0.183 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Ataxia v0.183 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence).
Ataxia v0.183 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Ataxia v0.183 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Red List (Low Evidence).
Ataxia v0.183 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Ataxia v0.183 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Red List (Low Evidence).
Ataxia v0.183 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Ataxia v0.183 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Mendeliome v0.2345 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Mendeliome v0.2345 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Mendeliome v0.2345 SEC63 Zornitza Stark Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2, MIM# 617004
Mendeliome v0.2344 SEC63 Zornitza Stark Publications for gene: SEC63 were set to
Mendeliome v0.2343 SEC63 Zornitza Stark Mode of inheritance for gene: SEC63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2342 CYP1B1 Zornitza Stark Marked gene: CYP1B1 as ready
Mendeliome v0.2342 CYP1B1 Zornitza Stark Gene: cyp1b1 has been classified as Green List (High Evidence).
Mendeliome v0.2342 CYP1B1 Zornitza Stark Phenotypes for gene: CYP1B1 were changed from to Anterior segment dysgenesis 6, multiple subtypes, 617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300
Mendeliome v0.2341 CYP1B1 Zornitza Stark Publications for gene: CYP1B1 were set to
Mendeliome v0.2340 CYP1B1 Zornitza Stark Mode of inheritance for gene: CYP1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2339 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Mendeliome v0.2339 DAG1 Zornitza Stark Gene: dag1 has been classified as Green List (High Evidence).
Mendeliome v0.2339 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia
Mendeliome v0.2338 DAG1 Zornitza Stark Publications for gene: DAG1 were set to
Mendeliome v0.2337 DAG1 Zornitza Stark Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.657 DPYD Zornitza Stark Marked gene: DPYD as ready
Genetic Epilepsy v0.657 DPYD Zornitza Stark Gene: dpyd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.657 DPYD Zornitza Stark Phenotypes for gene: DPYD were changed from to Dihydropyrimidine dehydrogenase deficiency, MIM# 274270
Genetic Epilepsy v0.656 DPYD Zornitza Stark Publications for gene: DPYD were set to
Genetic Epilepsy v0.656 DPYD Zornitza Stark Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.655 DPYD Zornitza Stark Tag SV/CNV tag was added to gene: DPYD.
Genetic Epilepsy v0.655 DPYD Zornitza Stark reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 19296131, 10071185; Phenotypes: Dihydropyrimidine dehydrogenase deficiency, MIM# 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2336 DPYD Zornitza Stark Marked gene: DPYD as ready
Mendeliome v0.2336 DPYD Zornitza Stark Gene: dpyd has been classified as Green List (High Evidence).
Mendeliome v0.2336 DPYD Zornitza Stark Phenotypes for gene: DPYD were changed from to 5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270
Mendeliome v0.2335 DPYD Zornitza Stark Publications for gene: DPYD were set to
Mendeliome v0.2334 DPYD Zornitza Stark Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2333 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Mendeliome v0.2333 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Mendeliome v0.2333 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170
Mendeliome v0.2332 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Mendeliome v0.2331 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2330 NF1 Zornitza Stark Marked gene: NF1 as ready
Mendeliome v0.2330 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Mendeliome v0.2330 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from to Leukemia, juvenile myelomonocytic 607785; Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321; Watson syndrome 193520
Mendeliome v0.2329 NF1 Zornitza Stark Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.336 TECTA Zornitza Stark Marked gene: TECTA as ready
Deafness_IsolatedAndComplex v0.336 TECTA Zornitza Stark Gene: tecta has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.336 TECTA Zornitza Stark Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543
Deafness_IsolatedAndComplex v0.335 TECTA Zornitza Stark Publications for gene: TECTA were set to