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Genetic Epilepsy v0.1677 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Genetic Epilepsy v0.1677 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1676 GCSH Ain Roesley Marked gene: GCSH as ready
Genetic Epilepsy v0.1676 GCSH Ain Roesley Gene: gcsh has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.18 SARS Ee Ming Wong gene: SARS was added
gene: SARS was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature
Mode of inheritance for gene: SARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SARS were set to 36088542
Phenotypes for gene: SARS were set to Genetic peripheral neuropathy MONDO#0020127, SARS1-related
Review for gene: SARS was set to GREEN
gene: SARS was marked as current diagnostic
Added comment: -Two missense variants within the aminoacylation domain identified in 16 affected individuals from 3 distinct CMT families
-Mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4968 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4968 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Congenital nystagmus v1.15 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Congenital nystagmus v1.15 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1676 GCSH Ain Roesley gene: GCSH was added
gene: GCSH was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 36190515
Phenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related
Penetrance for gene: GCSH were set to Complete
Review for gene: GCSH was set to GREEN
gene: GCSH was marked as current diagnostic
Added comment: 6x individuals, 3x with severe fatal glycine encephalopathy and 3x attenuated phenotype of developmental delay, behavioural problems, limited epilepsy, and variable movement problems

Severe fatal variants: 2x start loss and 1x missense
Attenuated variants : 2x missense and 1x exon 4-5 dup
Sources: Literature
Congenital nystagmus v1.14 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Congenital nystagmus. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with nystagmus (3/5), optic atrophy (1/5), ptosis (2/5)
- Overexpression supports a DN mechanism
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4967 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4967 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.145 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4966 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Intellectual disability syndromic and non-syndromic v0.4966 MTSS1L Elena Savva Gene: mtss1l has been classified as Red List (Low Evidence).
Mendeliome v1.358 DAW1 Alison Yeung Marked gene: DAW1 as ready
Mendeliome v1.358 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Heterotaxy v1.25 DAW1 Alison Yeung Marked gene: DAW1 as ready
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Mendeliome v1.358 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Mendeliome v1.358 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related
Proteinuria v0.210 LAMA5 Belinda Chong reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211, 16790509, 29764427, 30808327, 24130771, 35419533; Phenotypes: Nephrotic syndrome, Alport syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.357 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4966 MTSS1 Elena Savva Deleted their review
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Microcephaly v1.157 MTSS1 Elena Savva Deleted their review
Microcephaly v1.157 MTSS1 Elena Savva Deleted their comment
Callosome v0.482 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321; 36190515
Intellectual disability syndromic and non-syndromic v0.4965 GCSH Ain Roesley reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: Glycine encephalopathy MIM#605899, neurodevelopmental disorder MONDO#0700092, GCHS-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Heterotaxy v1.25 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Callosome v0.481 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Mendeliome v1.356 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Mendeliome v1.356 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Callosome v0.481 GCSH Ain Roesley Classified gene: GCSH as Amber List (moderate evidence)
Callosome v0.481 GCSH Ain Roesley Gene: gcsh has been classified as Amber List (Moderate Evidence).
Microcephaly v1.157 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD. Also noted to have progressive microcephaly (9th to <0.4th centile)

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Mendeliome v1.356 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Mendeliome v1.356 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Heterotaxy v1.25 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Mendeliome v1.355 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Microcephaly v1.157 MTSS1 Elena Savva gene: MTSS1 was added
gene: MTSS1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: MTSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1 were set to PMID: 36067766
Phenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1 was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with microcephaly or relative microcephaly (5/5)
- Overexpression supports a DN mechanism
Sources: Literature
Callosome v0.480 GCSH Ain Roesley reviewed gene: GCSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.354 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Mendeliome v1.354 FKBP6 Dean Phelan gene: FKBP6 was added
gene: FKBP6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FKBP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP6 were set to PMID: 36150389
Phenotypes for gene: FKBP6 were set to Spermatogenic failure (MONDO:0004983), FKBP6-related
Review for gene: FKBP6 was set to GREEN
Added comment: PMID: 36150389 - large cohort study of men with severe spermatogenic failure (SPGF), identified six individuals with rare bi-allelic loss of function variants in FKBP6. RT-qPCR and immunofluorescence confirmed lack of FKBP6 expression. In mice, Fkbp6 has also been shown to be essential for spermatogenesis.
Sources: Literature
Mendeliome v1.354 GCSH Ain Roesley Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM# 605899 to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related
Intellectual disability syndromic and non-syndromic v0.4965 MTSS1 Elena Savva gene: MTSS1 was added
gene: MTSS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1 were set to PMID: 36067766
Phenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1 was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.
- Overexpression supports a DN mechanism
Sources: Literature
Mendeliome v1.353 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Mendeliome v1.352 GCSH Ain Roesley edited their review of gene: GCSH: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v1.24 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Mendeliome v1.352 GCSH Ain Roesley edited their review of gene: GCSH: Changed phenotypes: Glycine encephalopathy MIM#605899, neurodevelopmental disorder MONDO#0700092, GCHS-related
Microcephaly v1.156 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Microcephaly v1.156 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1675 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Heterotaxy v1.24 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Microcephaly v1.156 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Microcephaly v1.156 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Marked gene: DAW1 as ready
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Mendeliome v1.352 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Mendeliome v1.352 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Microcephaly v1.156 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Microcephaly v1.156 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.212 SLC13A1 Lucy Spencer gene: SLC13A1 was added
gene: SLC13A1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A1 were set to 36175384
Phenotypes for gene: SLC13A1 were set to sulfation-related bone disorder MONDO:0019688, SLC13A1-related
Review for gene: SLC13A1 was set to RED
Added comment: PMID: 36175384- 1 patient with a homozygous nonsense variant in SLC13A1. Patient has enlargements of the joints, and spondylo-epi-metaphyseal radiological abnormalities in early childhood, which improved with age. Also autistic features and hyposulfatemia and hypersulfaturia, and reduced serum cholesterol sulfate. However the variant in this individual (Arg12Ter) has 569 hets and 1 hom in gnomad.

Also this patient was homozygous for CFTR Ala455Gly which is a known pathogenic variant associated with a less severe CF phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4964 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.
- Overexpression supports a DN mechanism
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4963 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Mendeliome v1.351 GCSH Ain Roesley reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: glycine encephalopathy MONDO#0011612, GCSH-related, neurodevelopmental disorder MONDO#0700092, GCHS-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Microcephaly v1.155 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4962 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Ciliary Dyskinesia v1.21 DAW1 Alison Yeung changed review comment from: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype
Sources: Literature; to: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Ciliary Dyskinesia v1.21 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4961 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability; Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Intellectual disability syndromic and non-syndromic v0.4960 NSD2 Zornitza Stark Publications for gene: NSD2 were set to 30345613; 31171569
Intellectual disability syndromic and non-syndromic v0.4959 NSD2 Zornitza Stark edited their review of gene: NSD2: Added comment: PMID 36189577: two individuals reported with a GoF variant, p.Glu1099Lys, and a distinct phenotype: intellectual disability, coarse/ square facial gestalt, abnormalities of the hands, and organomegaly.; Changed publications: 30345613, 31171569, 36189577; Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability, Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Mendeliome v1.351 NSD2 Zornitza Stark Publications for gene: NSD2 were set to 30345613; 31171569
Mendeliome v1.350 NSD2 Zornitza Stark edited their review of gene: NSD2: Changed publications: 36189577
Mendeliome v1.350 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability; Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Mendeliome v1.349 NSD2 Zornitza Stark Publications for gene: NSD2 were set to 30345613; 31171569
Mendeliome v1.348 NSD2 Zornitza Stark edited their review of gene: NSD2: Added comment: PMID 36189577: two individuals reported with a GoF variant, p.Glu1099Lys, and a distinct phenotype: intellectual disability, coarse/ square facial gestalt, abnormalities of the hands, and organomegaly.; Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability, Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Mendeliome v1.348 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Growth failure v1.44 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.454 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Genomic newborn screening: BabyScreen+ v0.454 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Cataract v0.345 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Fetal anomalies v1.71 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4959 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID (mild to severe)
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Ectodermal Dysplasia v0.72 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Ectodermal Dysplasia. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.454 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from Nephronophthisis to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900
Genomic newborn screening: BabyScreen+ v0.453 NPHP1 Zornitza Stark Classified gene: NPHP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.453 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.452 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.452 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Genomic newborn screening: BabyScreen+ v0.452 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.452 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Genomic newborn screening: BabyScreen+ v0.451 NPC2 Zornitza Stark reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann Pick C2, OMIM 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.451 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Genomic newborn screening: BabyScreen+ v0.451 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.451 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Genomic newborn screening: BabyScreen+ v0.450 NPC1 Zornitza Stark Tag for review tag was added to gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.450 NPC1 Zornitza Stark reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, MIM# 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.450 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Genomic newborn screening: BabyScreen+ v0.450 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.450 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310
Genomic newborn screening: BabyScreen+ v0.449 NOTCH3 Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.449 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.448 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.448 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Genomic newborn screening: BabyScreen+ v0.448 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.448 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from Hajdu-Cheney syndrome to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Genomic newborn screening: BabyScreen+ v0.447 NOTCH2 Zornitza Stark Classified gene: NOTCH2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.447 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.446 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.446 ORC1 David Amor reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.446 NOG Zornitza Stark Marked gene: NOG as ready
Genomic newborn screening: BabyScreen+ v0.446 NOG Zornitza Stark Gene: nog has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.446 NOG Zornitza Stark Phenotypes for gene: NOG were changed from Symphalangism, proximal, 1A to Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
Genomic newborn screening: BabyScreen+ v0.445 NOG Zornitza Stark Classified gene: NOG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.445 NOG Zornitza Stark Gene: nog has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.444 NOG Zornitza Stark edited their review of gene: NOG: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.444 NOG Zornitza Stark reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2 - MIM#611377, Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.444 NNT Zornitza Stark Marked gene: NNT as ready
Genomic newborn screening: BabyScreen+ v0.444 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.444 NNT Zornitza Stark Publications for gene: NNT were set to
Genomic newborn screening: BabyScreen+ v0.443 NNT Zornitza Stark Tag treatable tag was added to gene: NNT.
Genomic newborn screening: BabyScreen+ v0.443 NNT Zornitza Stark reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.443 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Genomic newborn screening: BabyScreen+ v0.443 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.443 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Genomic newborn screening: BabyScreen+ v0.442 OPA1 David Amor reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.442 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.442 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Genomic newborn screening: BabyScreen+ v0.442 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.442 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome 1, MIM# 122470
Genomic newborn screening: BabyScreen+ v0.441 NIPBL Zornitza Stark Classified gene: NIPBL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.441 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.440 NIPBL Zornitza Stark reviewed gene: NIPBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1, MIM# 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from Ichthyosis, autosomal recessive to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
Genomic newborn screening: BabyScreen+ v0.439 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Genomic newborn screening: BabyScreen+ v0.438 NIPAL4 Zornitza Stark reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 6, MIM# 612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.438 OFD1 David Amor reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome I; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.438 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Genomic newborn screening: BabyScreen+ v0.438 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.438 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from Myoclonic epilepsy of Lafora to Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780
Genomic newborn screening: BabyScreen+ v0.437 NHLRC1 Zornitza Stark Classified gene: NHLRC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.437 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.436 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Tag treatable tag was added to gene: NHEJ1.
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.436 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Genomic newborn screening: BabyScreen+ v0.436 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.436 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Developmental delay, multifocal epilepsy & abnormal liver function to Congenital disorder of deglycosylation, MIM# 615273
Genomic newborn screening: BabyScreen+ v0.435 NGLY1 Zornitza Stark Classified gene: NGLY1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.435 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.434 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.434 NF2 Zornitza Stark Marked gene: NF2 as ready
Genomic newborn screening: BabyScreen+ v0.434 NF2 Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.434 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from Neurofibromatosis 2 to Neurofibromatosis, type 2 (MIM# 101000)
Genomic newborn screening: BabyScreen+ v0.433 NF2 Zornitza Stark Classified gene: NF2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.433 NF2 Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.432 NF2 Zornitza Stark reviewed gene: NF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2 (MIM# 101000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.432 NF1 Zornitza Stark Marked gene: NF1 as ready
Genomic newborn screening: BabyScreen+ v0.432 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.432 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 to Neurofibromatosis, type 1, MIM# 162200
Genomic newborn screening: BabyScreen+ v0.431 NF1 Zornitza Stark Publications for gene: NF1 were set to
Genomic newborn screening: BabyScreen+ v0.430 NF1 Zornitza Stark reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1, MIM# 162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Tag treatable tag was added to gene: NEUROG3.
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.430 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Genomic newborn screening: BabyScreen+ v0.430 NEU1 Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.430 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from Sialidosis to Sialidosis, type I and type II, MIM# 256550
Genomic newborn screening: BabyScreen+ v0.429 NEU1 Zornitza Stark Classified gene: NEU1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.429 NEU1 Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.428 NEU1 Zornitza Stark reviewed gene: NEU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis, type I and type II, MIM# 256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Classified gene: NEK8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.427 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Classified gene: NEK1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.426 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.426 NEFL Zornitza Stark Marked gene: NEFL as ready
Genomic newborn screening: BabyScreen+ v0.426 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.426 NEFL Zornitza Stark Phenotypes for gene: NEFL were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882; Charcot-Marie-Tooth disease, type 1F, MIM# 607734; Charcot-Marie-Tooth disease, type 2E 607684
Genomic newborn screening: BabyScreen+ v0.425 OCRL David Amor reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.425 NEFL Zornitza Stark Mode of inheritance for gene: NEFL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.424 NEFL Zornitza Stark Classified gene: NEFL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.424 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.423 NEFL Zornitza Stark reviewed gene: NEFL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882, Charcot-Marie-Tooth disease, type 1F, MIM# 607734, Charcot-Marie-Tooth disease, type 2E 607684; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Marked gene: NEB as ready
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy to Nemaline myopathy 2, autosomal recessive 256030; Arthrogryposis multiplex congenita 6, MIM# 619334
Genomic newborn screening: BabyScreen+ v0.422 NEB Zornitza Stark Classified gene: NEB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.422 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.421 NEB Zornitza Stark reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030, Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.421 NDP Zornitza Stark Marked gene: NDP as ready
Genomic newborn screening: BabyScreen+ v0.421 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.421 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease to Norrie disease, MIM# 310600
Genomic newborn screening: BabyScreen+ v0.420 NDP Zornitza Stark Classified gene: NDP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.420 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.419 NDP Zornitza Stark reviewed gene: NDP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.419 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Genomic newborn screening: BabyScreen+ v0.419 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.419 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Genomic newborn screening: BabyScreen+ v0.418 NCF2 Zornitza Stark Tag treatable tag was added to gene: NCF2.
Genomic newborn screening: BabyScreen+ v0.418 NCF2 Zornitza Stark reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.418 OCA2 David Amor reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.418 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Genomic newborn screening: BabyScreen+ v0.418 NCF1 Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.418 NCF1 Zornitza Stark Publications for gene: NCF1 were set to
Genomic newborn screening: BabyScreen+ v0.417 NCF1 Zornitza Stark Tag treatable tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ v0.417 NCF1 Zornitza Stark reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 1, autosomal recessive, MIM# 233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Marked gene: NBN as ready
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Classified gene: NBN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.416 NBN Zornitza Stark Tag for review tag was added to gene: NBN.
Genomic newborn screening: BabyScreen+ v0.416 NBN Zornitza Stark reviewed gene: NBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome, MIM# 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Marked gene: NAGS as ready
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Tag treatable tag was added to gene: NAGS.
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency - MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.416 OBSL1 David Amor reviewed gene: OBSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.416 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Genomic newborn screening: BabyScreen+ v0.416 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.416 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Sanfilippo syndrome type B to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Genomic newborn screening: BabyScreen+ v0.415 NAGLU Zornitza Stark Tag treatable tag was added to gene: NAGLU.
Genomic newborn screening: BabyScreen+ v0.415 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.415 NAGA Zornitza Stark Marked gene: NAGA as ready
Genomic newborn screening: BabyScreen+ v0.415 NAGA Zornitza Stark Gene: naga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.415 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from N-acetylgalactosaminidase alpha deficiency to Kanzaki disease, MIM# 609242
Genomic newborn screening: BabyScreen+ v0.414 NAGA Zornitza Stark Classified gene: NAGA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.414 NAGA Zornitza Stark Gene: naga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.413 NAGA Zornitza Stark reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease, MIM# 609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Classified gene: MYO9A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.412 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.412 NEU1 David Amor edited their review of gene: NEU1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.412 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Genomic newborn screening: BabyScreen+ v0.412 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.412 MYO7A Zornitza Stark Phenotypes for gene: MYO7A were changed from Usher syndrome to Deafness, autosomal recessive 2, 600060; Usher syndrome, type 1B, MIM# 276900
Genomic newborn screening: BabyScreen+ v0.411 MYO7A Zornitza Stark reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 2, 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.411 MYO6 Zornitza Stark Marked gene: MYO6 as ready
Genomic newborn screening: BabyScreen+ v0.411 MYO6 Zornitza Stark Gene: myo6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.411 MYO6 Zornitza Stark Phenotypes for gene: MYO6 were changed from Deafness to Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821
Genomic newborn screening: BabyScreen+ v0.410 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.409 MYO6 Zornitza Stark Tag for review tag was added to gene: MYO6.
Genomic newborn screening: BabyScreen+ v0.409 MYO6 Zornitza Stark reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 22, MIM# 606346, Deafness, autosomal recessive 37, MIM# 607821; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.409 MYO3A Zornitza Stark Marked gene: MYO3A as ready
Genomic newborn screening: BabyScreen+ v0.409 MYO3A Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.409 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 30, MIM:607101
Genomic newborn screening: BabyScreen+ v0.408 MYO3A Zornitza Stark Classified gene: MYO3A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.408 MYO3A Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.407 MYO3A Zornitza Stark reviewed gene: MYO3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.407 MYO15A Zornitza Stark Marked gene: MYO15A as ready
Genomic newborn screening: BabyScreen+ v0.407 MYO15A Zornitza Stark Gene: myo15a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.407 MYO15A Zornitza Stark Phenotypes for gene: MYO15A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 3, MIM# 600316
Genomic newborn screening: BabyScreen+ v0.406 MYO15A Zornitza Stark reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 3, MIM# 600316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.406 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Genomic newborn screening: BabyScreen+ v0.406 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.406 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from Macrothrombocytopenia and progressive sensorineural deafness to Deafness, autosomal dominant 17, MIM# 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Genomic newborn screening: BabyScreen+ v0.405 MYH9 Zornitza Stark Classified gene: MYH9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.405 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.404 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 17, MIM# 603622, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.403 MYH7 Zornitza Stark Classified gene: MYH7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.403 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.402 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426 MONDO:0013262, Cardiomyopathy, hypertrophic, 1, MIM# 192600, Laing distal myopathy, MIM# 160500, Myopathy, myosin storage, autosomal dominant, MIM# 608358, Myopathy, myosin storage, autosomal recessive, MIM# 255160; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.402 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Genomic newborn screening: BabyScreen+ v0.402 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.402 MYH3 Zornitza Stark Phenotypes for gene: MYH3 were changed from Arthrogryposis, distal to Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469
Genomic newborn screening: BabyScreen+ v0.401 MYH3 Zornitza Stark Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.400 MYH3 Zornitza Stark Classified gene: MYH3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.400 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.399 MYH3 Zornitza Stark reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436, Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.399 MYH2 Zornitza Stark Marked gene: MYH2 as ready
Genomic newborn screening: BabyScreen+ v0.399 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.399 MYH2 Zornitza Stark Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia to Proximal myopathy and ophthalmoplegia, MIM# 605637
Genomic newborn screening: BabyScreen+ v0.398 MYH2 Zornitza Stark Classified gene: MYH2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.398 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.397 MYH2 Zornitza Stark reviewed gene: MYH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia, MIM# 605637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.397 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Genomic newborn screening: BabyScreen+ v0.397 MYH14 Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.397 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 4A, MIM# 600652; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
Genomic newborn screening: BabyScreen+ v0.396 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
Genomic newborn screening: BabyScreen+ v0.395 MYH14 Zornitza Stark Classified gene: MYH14 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.395 MYH14 Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.394 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652, Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.394 MYCN Zornitza Stark Marked gene: MYCN as ready
Genomic newborn screening: BabyScreen+ v0.394 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.394 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from Feingold syndrome to Feingold syndrome 1, MIM# 164280
Genomic newborn screening: BabyScreen+ v0.393 MYCN Zornitza Stark Classified gene: MYCN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.393 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.392 MYCN Zornitza Stark reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome 1, MIM# 164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Classified gene: MYBPC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.391 MYBPC1 Zornitza Stark reviewed gene: MYBPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.391 MVK Zornitza Stark Marked gene: MVK as ready
Genomic newborn screening: BabyScreen+ v0.391 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.391 MVK Zornitza Stark Phenotypes for gene: MVK were changed from Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377 to Mevalonic aciduria, MIM# 610377
Genomic newborn screening: BabyScreen+ v0.390 MVK Zornitza Stark Publications for gene: MVK were set to
Genomic newborn screening: BabyScreen+ v0.389 MVK Zornitza Stark Tag treatable tag was added to gene: MVK.
Genomic newborn screening: BabyScreen+ v0.389 MVK Zornitza Stark reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.389 XPA Zornitza Stark Marked gene: XPA as ready
Genomic newborn screening: BabyScreen+ v0.389 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.389 XPA Zornitza Stark Phenotypes for gene: XPA were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group A MIM#278700
Genomic newborn screening: BabyScreen+ v0.388 XPA Zornitza Stark Tag treatable tag was added to gene: XPA.
Tag clinical trial tag was added to gene: XPA.
Mendeliome v1.348 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to 20832341
Genomic newborn screening: BabyScreen+ v0.388 XPC Zornitza Stark Marked gene: XPC as ready
Genomic newborn screening: BabyScreen+ v0.388 XPC Zornitza Stark Gene: xpc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.388 XPC Zornitza Stark Phenotypes for gene: XPC were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group C MIM#278720
Genomic newborn screening: BabyScreen+ v0.387 XPC Zornitza Stark Publications for gene: XPC were set to
Genomic newborn screening: BabyScreen+ v0.386 XPC Zornitza Stark Tag treatable tag was added to gene: XPC.
Tag clinical trial tag was added to gene: XPC.
Mendeliome v1.347 TRAF3 Zornitza Stark Classified gene: TRAF3 as Green List (high evidence)
Mendeliome v1.347 TRAF3 Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence).
Mendeliome v1.346 TRAF3 Zornitza Stark changed review comment from: Single individual reported.; to: Single individual reported with HSV-induced encephalopathy.
Mendeliome v1.346 TRAF3 Zornitza Stark edited their review of gene: TRAF3: Added comment: PMID 35960817: Nine individuals from five unrelated families with childhood-onset immune diseases and recurrent infections. All patients had suffered recurrent ear and sinopulmonary infections, including pneumonias from encapsulated bacteria Streptococcus pneumoniae and Haemophilus influenza, resulting in early-onset bronchiectasis in several individuals; Changed rating: GREEN; Changed publications: 20832341, 35960817; Changed phenotypes: Autoinflammatory syndrome, TRAF3-related, MONDO:0019751, hypergammaglobulinemia, lymphadenopathy, splenomegaly, Sjögren’s syndrome, {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Disorders of immune dysregulation v0.157 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Disorders of immune dysregulation v0.157 TRAF3 Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.157 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome to Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome
Disorders of immune dysregulation v0.156 TRAF3 Zornitza Stark Classified gene: TRAF3 as Green List (high evidence)
Disorders of immune dysregulation v0.156 TRAF3 Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.155 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.386 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Genomic newborn screening: BabyScreen+ v0.386 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.386 MUTYH Zornitza Stark Phenotypes for gene: MUTYH were changed from MUTYH-associated polyposis to Adenomas, multiple colorectal, MIM# 608456
Genomic newborn screening: BabyScreen+ v0.385 MUTYH Zornitza Stark Classified gene: MUTYH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.385 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Microcephaly v1.154 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

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Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Fetal anomalies v1.71 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

----

Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Differences of Sex Development v0.267 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

----

Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Arthrogryposis v0.353 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

----

Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Central Hypoventilation v1.3 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Central Hypoventilation. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

----

Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Mendeliome v1.346 KCNK3 Krithika Murali reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36195757; Phenotypes: eurodevelopmental disorder, MONDO:0700092, KCNK3-related, developmental delay with sleep apnoea (DDSA), Pulmonary hypertension, primary, 4-MIM#615344; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4959 KCNK3 Krithika Murali reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36195757; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KCNK3-related, developmental delay with sleep apnoea (DDSA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.13 KCNK3 Krithika Murali reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.346 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Combined Immunodeficiency v1.26 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Bone Marrow Failure v1.21 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome 4, MIM#618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v1.9 MUSK Zornitza Stark Tag treatable tag was added to gene: MUSK.
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Marked gene: MUSK as ready
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Tag treatable tag was added to gene: MUSK.
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.196 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Hereditary Neuropathy - complex v0.135 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Dyslipidaemia v0.35 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Ataxia - paediatric v0.344 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Regression v0.507 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Congenital Diarrhoea v1.10 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Genomic newborn screening: BabyScreen+ v0.384 MTTP Zornitza Stark Marked gene: MTTP as ready
Genomic newborn screening: BabyScreen+ v0.384 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Abetalipoproteinaemia to Abetalipoproteinemia, MIM# 200100
Genomic newborn screening: BabyScreen+ v0.383 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Genomic newborn screening: BabyScreen+ v0.383 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.383 MTRR Zornitza Stark Marked gene: MTRR as ready
Genomic newborn screening: BabyScreen+ v0.383 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.383 MTRR Zornitza Stark Publications for gene: MTRR were set to
Genomic newborn screening: BabyScreen+ v0.382 MTRR Zornitza Stark reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.382 MSX2 Zornitza Stark Marked gene: MSX2 as ready
Genomic newborn screening: BabyScreen+ v0.382 MSX2 Zornitza Stark Gene: msx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.382 MSX2 Zornitza Stark Phenotypes for gene: MSX2 were changed from Parietal foramina 1 to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)
Genomic newborn screening: BabyScreen+ v0.381 MSX2 Zornitza Stark Classified gene: MSX2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.381 MSX2 Zornitza Stark Gene: msx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.380 MSX2 Zornitza Stark reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Marked gene: MRAP as ready
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Gene: mrap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Tag treatable tag was added to gene: MRAP.
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 2, MIM# 607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.380 MTR Zornitza Stark Marked gene: MTR as ready
Genomic newborn screening: BabyScreen+ v0.380 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.380 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Methylmalonic aciduria and homocystinuria, MIM#250940 to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Genomic newborn screening: BabyScreen+ v0.379 MTR Zornitza Stark Publications for gene: MTR were set to
Genomic newborn screening: BabyScreen+ v0.378 MTR Zornitza Stark reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.378 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Genomic newborn screening: BabyScreen+ v0.378 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.378 MTM1 Zornitza Stark Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked to Myopathy, centronuclear, X-linked, MIM# 310400
Genomic newborn screening: BabyScreen+ v0.377 MTM1 Zornitza Stark Classified gene: MTM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.377 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.376 MTM1 Zornitza Stark reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.376 MPZ Zornitza Stark Marked gene: MPZ as ready
Genomic newborn screening: BabyScreen+ v0.376 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.376 MPZ Zornitza Stark Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677
Genomic newborn screening: BabyScreen+ v0.375 MPZ Zornitza Stark Mode of inheritance for gene: MPZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.374 MPZ Zornitza Stark Classified gene: MPZ as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.374 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.373 MPZ Zornitza Stark reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot Marie Tooth disease, dominant intermediate D, 60779, Neuropathy, congenital hypomyelinating, 605253, Charcot Marie Tooth disease, type 2J, 607736, Dejerine Sottas disease, 145900, Charcot Marie Tooth disease, type 1B, 118200, Charcot Marie Tooth disease, type 2I, 607677; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.373 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Genomic newborn screening: BabyScreen+ v0.373 MPV17 Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.373 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome, hepatic to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Genomic newborn screening: BabyScreen+ v0.372 MPV17 Zornitza Stark Classified gene: MPV17 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.372 MPV17 Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.371 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Tag treatable tag was added to gene: MPL.
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Marked gene: MPL as ready
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Thrombocytopaenia, congenital amegakaryocytic, MIM# 604498 to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Genomic newborn screening: BabyScreen+ v0.370 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Amegakaryocytic thrombocytopaenia, congenital to Thrombocytopaenia, congenital amegakaryocytic, MIM# 604498
Genomic newborn screening: BabyScreen+ v0.369 MPL Zornitza Stark Publications for gene: MPL were set to
Genomic newborn screening: BabyScreen+ v0.368 MPL Zornitza Stark reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, congenital amegakaryocytic, MIM# 604498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.368 MPI Zornitza Stark Marked gene: MPI as ready
Genomic newborn screening: BabyScreen+ v0.368 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.368 MPI Zornitza Stark Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation 1b to Congenital disorder of glycosylation, type Ib, MIM# 602579
Genomic newborn screening: BabyScreen+ v0.367 MPI Zornitza Stark Publications for gene: MPI were set to
Genomic newborn screening: BabyScreen+ v0.366 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Classified gene: MPDU1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.365 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Genomic newborn screening: BabyScreen+ v0.365 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.365 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from Molybdenum cofactor deficiency to Molybdenum cofactor deficiency B, MIM#252160
Genomic newborn screening: BabyScreen+ v0.364 MOCS2 Zornitza Stark Classified gene: MOCS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.364 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.363 MOCS2 Zornitza Stark reviewed gene: MOCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency B MIM#252160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.346 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Miscellaneous Metabolic Disorders v1.23 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Intellectual disability syndromic and non-syndromic v0.4959 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Genetic Epilepsy v0.1675 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Genomic newborn screening: BabyScreen+ v0.363 MOCS1 Zornitza Stark Marked gene: MOCS1 as ready
Genomic newborn screening: BabyScreen+ v0.363 MOCS1 Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.363 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to
Genomic newborn screening: BabyScreen+ v0.362 MOCS1 Zornitza Stark reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.362 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Hyperammonaemia v0.6 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Cardiomyopathy_Paediatric v0.134 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Intellectual disability syndromic and non-syndromic v0.4959 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Mendeliome v1.346 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Fatty Acid Oxidation Defects v1.8 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Genomic newborn screening: BabyScreen+ v0.361 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.361 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Genomic newborn screening: BabyScreen+ v0.361 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.361 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from ZAP70-related severe combined immunodeficiency to Immunodeficiency MIM#176947
Genomic newborn screening: BabyScreen+ v0.360 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Genomic newborn screening: BabyScreen+ v0.359 ZAP70 Zornitza Stark Tag treatable tag was added to gene: ZAP70.
Genomic newborn screening: BabyScreen+ v0.359 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Genomic newborn screening: BabyScreen+ v0.359 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.359 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome to Mowat-Wilson syndrome MIM# 235730
Genomic newborn screening: BabyScreen+ v0.358 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Genomic newborn screening: BabyScreen+ v0.357 ZEB2 Zornitza Stark Classified gene: ZEB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.357 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.356 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Genomic newborn screening: BabyScreen+ v0.356 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.356 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly-5 to Holoprosencephaly MIM#603073
Genomic newborn screening: BabyScreen+ v0.355 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Genomic newborn screening: BabyScreen+ v0.354 ZIC2 Zornitza Stark Classified gene: ZIC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.354 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.353 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Genomic newborn screening: BabyScreen+ v0.353 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.353 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from Heterotaxy to X linked heterotaxy and congenital heart defects MIM:306955
Genomic newborn screening: BabyScreen+ v0.352 ZIC3 Zornitza Stark Publications for gene: ZIC3 were set to
Genomic newborn screening: BabyScreen+ v0.351 ZIC3 Zornitza Stark Classified gene: ZIC3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.351 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.350 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Genomic newborn screening: BabyScreen+ v0.350 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.350 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from Restrictive dermopathy to Restrictive dermopathy 1, MIM# MIM:275210
Genomic newborn screening: BabyScreen+ v0.349 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Genomic newborn screening: BabyScreen+ v0.348 ZMPSTE24 Zornitza Stark Classified gene: ZMPSTE24 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.348 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.347 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Restrictive dermopathy 1, MIM# MIM:275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.347 ZNF469 Zornitza Stark Marked gene: ZNF469 as ready
Genomic newborn screening: BabyScreen+ v0.347 ZNF469 Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.347 ZNF469 Zornitza Stark Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome to Brittle cornea syndrome MIM#229200
Genomic newborn screening: BabyScreen+ v0.346 ZNF469 Zornitza Stark Publications for gene: ZNF469 were set to
Genomic newborn screening: BabyScreen+ v0.345 ZNF469 Zornitza Stark Classified gene: ZNF469 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.345 ZNF469 Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.344 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Genomic newborn screening: BabyScreen+ v0.344 MLC1 Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.344 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy to Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004
Genomic newborn screening: BabyScreen+ v0.343 MLC1 Zornitza Stark Classified gene: MLC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.343 MLC1 Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.342 MLC1 Zornitza Stark reviewed gene: MLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Marked gene: NANS as ready
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Classified gene: NANS as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Marked gene: NBAS as ready
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Classified gene: NBAS as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Gene: npr2 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Classified gene: NPR2 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Gene: npr2 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.133 NPR2 Zornitza Stark reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acromesomelic dysplasia 1, Maroteaux type - MIM#602875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.133 NPR2 Zornitza Stark Classified gene: NPR2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.133 NPR2 Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.342 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Genomic newborn screening: BabyScreen+ v0.342 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.342 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Meckel syndrome to Joubert syndrome 28, MIM# 617121 MONDO:0014928; Meckel syndrome 1, MIM# 249000 MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441
Genomic newborn screening: BabyScreen+ v0.341 MKS1 Zornitza Stark Classified gene: MKS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.341 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.340 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 28, MIM# 617121 MONDO:0014928, Meckel syndrome 1, MIM# 249000 MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.340 MKKS Zornitza Stark Marked gene: MKKS as ready
Genomic newborn screening: BabyScreen+ v0.340 MKKS Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.340 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700
Genomic newborn screening: BabyScreen+ v0.339 MKKS Zornitza Stark Classified gene: MKKS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.339 MKKS Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.338 MKKS Zornitza Stark reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.338 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Genomic newborn screening: BabyScreen+ v0.338 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.338 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Genomic newborn screening: BabyScreen+ v0.337 LAMB3 Zornitza Stark Mode of inheritance for gene: LAMB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.336 LAMB3 Zornitza Stark Classified gene: LAMB3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.336 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.335 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Genomic newborn screening: BabyScreen+ v0.335 LAMA2 Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.335 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Genomic newborn screening: BabyScreen+ v0.334 LAMA2 Zornitza Stark Classified gene: LAMA2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.334 LAMA2 Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.333 MITF Zornitza Stark Marked gene: MITF as ready
Genomic newborn screening: BabyScreen+ v0.333 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.333 MITF Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg syndrome to Waardenburg syndrome, type 2A, MIM# 193510; Deafness
Genomic newborn screening: BabyScreen+ v0.332 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.331 MITF Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.331 MGP Zornitza Stark Marked gene: MGP as ready
Genomic newborn screening: BabyScreen+ v0.331 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.331 MGP Zornitza Stark Phenotypes for gene: MGP were changed from Keutel syndrome to Keutel syndrome, MIM #245150
Genomic newborn screening: BabyScreen+ v0.330 MGP Zornitza Stark Classified gene: MGP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.330 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.329 MGP Zornitza Stark reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, MIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Classified gene: MGAT2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.328 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.328 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Genomic newborn screening: BabyScreen+ v0.328 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.328 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
Genomic newborn screening: BabyScreen+ v0.327 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Genomic newborn screening: BabyScreen+ v0.326 MFSD8 Zornitza Stark Classified gene: MFSD8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.326 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.325 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: 31597037; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.325 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Genomic newborn screening: BabyScreen+ v0.325 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.325 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152
Genomic newborn screening: BabyScreen+ v0.324 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.323 MFN2 Zornitza Stark Classified gene: MFN2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.323 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.322 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.322 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Genomic newborn screening: BabyScreen+ v0.322 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.322 MEN1 Zornitza Stark Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia I to Multiple endocrine neoplasia 1, MIM#131100
Genomic newborn screening: BabyScreen+ v0.321 MEN1 Zornitza Stark Tag for review tag was added to gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.321 MEN1 Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM#131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.321 MEGF10 Zornitza Stark Marked gene: MEGF10 as ready
Genomic newborn screening: BabyScreen+ v0.321 MEGF10 Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.321 MEGF10 Zornitza Stark Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399
Genomic newborn screening: BabyScreen+ v0.320 MEGF10 Zornitza Stark Classified gene: MEGF10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.320 MEGF10 Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.319 MEGF10 Zornitza Stark reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.319 MEFV Zornitza Stark Marked gene: MEFV as ready
Genomic newborn screening: BabyScreen+ v0.319 MEFV Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.319 MEFV Zornitza Stark Phenotypes for gene: MEFV were changed from Mediterranean fever, familial to Familial Mediterranean fever MIM# 249100
Genomic newborn screening: BabyScreen+ v0.318 MEFV Zornitza Stark Tag for review tag was added to gene: MEFV.
Genomic newborn screening: BabyScreen+ v0.318 MEFV Zornitza Stark reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever MIM# 249100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Marked gene: MED25 as ready
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Classified gene: MED25 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.317 MED25 Zornitza Stark reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.317 MED12 Zornitza Stark Marked gene: MED12 as ready
Genomic newborn screening: BabyScreen+ v0.317 MED12 Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.317 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Intellectual disability to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068
Genomic newborn screening: BabyScreen+ v0.316 MED12 Zornitza Stark Classified gene: MED12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.316 MED12 Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.315 MED12 Zornitza Stark reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ohdo syndrome, X-linked MIM#300895, Lujan-Fryns syndrome MIM#309520, Opitz-Kaveggia syndrome MIM#305450, Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.315 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Genomic newborn screening: BabyScreen+ v0.315 MECP2 Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.315 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from Rett syndrome to MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055
Genomic newborn screening: BabyScreen+ v0.314 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.313 MECP2 Zornitza Stark Classified gene: MECP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.313 MECP2 Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.312 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.312 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Genomic newborn screening: BabyScreen+ v0.312 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.312 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive to Microcephaly 1, primary, autosomal recessive, MIM# 251200
Genomic newborn screening: BabyScreen+ v0.311 MCPH1 Zornitza Stark reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.311 MCPH1 Zornitza Stark Classified gene: MCPH1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.311 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Proteinuria v0.210 MEFV Zornitza Stark Marked gene: MEFV as ready
Proteinuria v0.210 MEFV Zornitza Stark Gene: mefv has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Marked gene: COQ8B as ready
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Tag for review tag was added to gene: COQ8B.
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.310 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Genomic newborn screening: BabyScreen+ v0.310 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.310 COQ8A Zornitza Stark Publications for gene: COQ8A were set to
Rhabdomyolysis and Metabolic Myopathy v0.90 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Dystonia - complex v0.217 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Ataxia - paediatric v0.344 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Intellectual disability syndromic and non-syndromic v0.4959 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Regression v0.507 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Mitochondrial disease v0.836 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Mendeliome v1.346 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Genomic newborn screening: BabyScreen+ v0.309 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Genomic newborn screening: BabyScreen+ v0.309 COQ8A Zornitza Stark reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Tag for review tag was added to gene: COQ7.
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 8 MIM#616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.134 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Ataxia - paediatric v0.344 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Intellectual disability syndromic and non-syndromic v0.4959 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Regression v0.507 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Mitochondrial disease v0.836 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Genetic Epilepsy v0.1675 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Mendeliome v1.346 COQ4 Zornitza Stark changed review comment from: Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported. At least 9 unrelated families reported.; to: Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported. At least 9 unrelated families reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.
Mendeliome v1.346 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v1.6 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Congenital Myasthenia v1.9 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Mendeliome v1.346 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Marked gene: COLQ as ready
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.309 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark edited their review of gene: CLN8: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Genomic newborn screening: BabyScreen+ v0.307 CLN8 Zornitza Stark Publications for gene: CLN8 were set to
Genomic newborn screening: BabyScreen+ v0.306 CLN8 Zornitza Stark Classified gene: CLN8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.306 CLN8 Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.305 CLN8 Zornitza Stark reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.305 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Genomic newborn screening: BabyScreen+ v0.305 CLN6 Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.305 CLN6 Zornitza Stark Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
Genomic newborn screening: BabyScreen+ v0.304 CLN6 Zornitza Stark Publications for gene: CLN6 were set to
Genomic newborn screening: BabyScreen+ v0.303 CLN6 Zornitza Stark Classified gene: CLN6 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.303 CLN6 Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.302 CLN6 Zornitza Stark Tag for review tag was added to gene: CLN6.
Tag clinical trial tag was added to gene: CLN6.
Genomic newborn screening: BabyScreen+ v0.302 CLN6 Zornitza Stark reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.302 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Genomic newborn screening: BabyScreen+ v0.302 CLN5 Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.302 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745
Genomic newborn screening: BabyScreen+ v0.301 CLN5 Zornitza Stark Classified gene: CLN5 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.301 CLN5 Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.300 CLN5 Zornitza Stark Tag for review tag was added to gene: CLN5.
Tag clinical trial tag was added to gene: CLN5.
Genomic newborn screening: BabyScreen+ v0.300 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.300 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Genomic newborn screening: BabyScreen+ v0.300 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.300 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
Genomic newborn screening: BabyScreen+ v0.299 CLN3 Zornitza Stark Classified gene: CLN3 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.299 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.298 CLN3 Zornitza Stark Tag for review tag was added to gene: CLN3.
Tag clinical trial tag was added to gene: CLN3.
Genomic newborn screening: BabyScreen+ v0.298 CLN3 Zornitza Stark reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Classified gene: PAM16 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Marked gene: PCNT as ready
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Classified gene: PCNT as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Marked gene: POC1A as ready
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Classified gene: POC1A as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Marked gene: POP1 as ready
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Classified gene: POP1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Classified gene: ROR2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.298 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Genomic newborn screening: BabyScreen+ v0.298 CHRNG Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.298 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from Pterygium syndrome to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290
Genomic newborn screening: BabyScreen+ v0.297 CHRNG Zornitza Stark Classified gene: CHRNG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.297 CHRNG Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.296 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.296 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Genomic newborn screening: BabyScreen+ v0.296 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.296 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from Congenital myasthenic syndrome, MIM#605809 to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Congenital ophthalmoplegia v1.6 CHRNE Zornitza Stark Tag treatable tag was added to gene: CHRNE.
Congenital Myasthenia v1.9 CHRNE Zornitza Stark Tag treatable tag was added to gene: CHRNE.
Mendeliome v1.346 CHRNE Zornitza Stark Tag treatable tag was added to gene: CHRNE.
Congenital ophthalmoplegia v1.6 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Congenital Myasthenia v1.9 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Multiple pterygium syndrome_Fetal akinesia sequence v1.0 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Mendeliome v1.346 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Genomic newborn screening: BabyScreen+ v0.295 CHRNE Zornitza Stark changed review comment from: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.

Severe disorder, congenital.; to: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.

Severe disorder, congenital.

Treatment available.
Genomic newborn screening: BabyScreen+ v0.295 CHRNE Zornitza Stark reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark changed review comment from: Well established gene-disease association.

Severe disorder, perinatal onset.

Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors; to: Well established gene-disease association for bi-allelic variants. Single individual only with mono-allelic variant reported.

Severe disorder, perinatal onset.

Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark Marked gene: CHRND as ready
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Congenital myasthenic syndrome, MIM#616321 to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Genomic newborn screening: BabyScreen+ v0.294 CHRND Zornitza Stark Publications for gene: CHRND were set to
Genomic newborn screening: BabyScreen+ v0.293 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v1.6 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Congenital Myasthenia v1.9 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Multiple pterygium syndrome_Fetal akinesia sequence v1.0 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Mendeliome v1.346 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Genomic newborn screening: BabyScreen+ v0.293 SLC5A2 Zornitza Stark Marked gene: SLC5A2 as ready
Genomic newborn screening: BabyScreen+ v0.293 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.293 SLC5A2 Zornitza Stark Phenotypes for gene: SLC5A2 were changed from Renal glucosuria to Renal glucosuria, MIM# 233100
Genomic newborn screening: BabyScreen+ v0.292 SLC5A2 Zornitza Stark Mode of inheritance for gene: SLC5A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.291 SLC5A2 Zornitza Stark Classified gene: SLC5A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.291 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.290 SLC5A2 Zornitza Stark reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, MIM# 233100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.71 ADAMTS19 Zornitza Stark Phenotypes for gene: ADAMTS19 were changed from Heart valve disorder, MONDO:0002869 to Cardiac valvular dysplasia 2, MIM# 620067
Fetal anomalies v1.70 ADAMTS19 Zornitza Stark edited their review of gene: ADAMTS19: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.70 ADAMTS19 Zornitza Stark reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac valvular dysplasia 2, MIM# 620067; Mode of inheritance: None
Mendeliome v1.346 ADAMTS19 Zornitza Stark Phenotypes for gene: ADAMTS19 were changed from Non-syndromic heart valve disease to Cardiac valvular dysplasia 2, MIM# 620067
Mendeliome v1.345 ADAMTS19 Zornitza Stark edited their review of gene: ADAMTS19: Changed phenotypes: Cardiac valvular dysplasia 2, MIM# 620067
Congenital Heart Defect v0.266 ADAMTS19 Zornitza Stark Phenotypes for gene: ADAMTS19 were changed from Non-syndromic heart valve disease to Cardiac valvular dysplasia 2, MIM# 620067
Congenital Heart Defect v0.265 ADAMTS19 Zornitza Stark edited their review of gene: ADAMTS19: Changed phenotypes: Cardiac valvular dysplasia 2, MIM# 620067
Congenital nystagmus v1.13 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Intellectual disability syndromic and non-syndromic v0.4959 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Congenital nystagmus v1.12 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.154 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Intellectual disability syndromic and non-syndromic v0.4958 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.265 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Microcephaly v1.153 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.264 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.345 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Mendeliome v1.344 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4958 DPH2 Zornitza Stark Phenotypes for gene: DPH2 were changed from Diphthamide-deficiency syndrome to Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Diphthamide-deficiency syndrome
Intellectual disability syndromic and non-syndromic v0.4957 DPH2 Zornitza Stark reviewed gene: DPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.344 DPH2 Zornitza Stark Phenotypes for gene: DPH2 were changed from Diphthamide-deficiency syndrome to Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Diphthamide-deficiency syndrome
Mendeliome v1.343 DPH2 Zornitza Stark reviewed gene: DPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.290 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Genomic newborn screening: BabyScreen+ v0.290 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.290 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from Congenital myasthenic syndrome, MIM#601462 to Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Genomic newborn screening: BabyScreen+ v0.289 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark edited their review of gene: CHRNA1: Changed publications: 30808424
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v1.6 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Congenital Myasthenia v1.9 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Arthrogryposis v0.353 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Mendeliome v1.343 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Marked gene: CHAT as ready
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Marked gene: CA5A as ready
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Mitochondrial disease v0.836 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Mendeliome v1.343 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark changed review comment from: Well established gene-disease association.

Childhood onset.

Treatable with IVIG.; to: Well established gene-disease association with isolated agammaglobulinaemia. At least 3 families reported with associated GH deficiency, which is also treatable.

Childhood onset.

Treatable with IVIG.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark edited their review of gene: BTK: Changed phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Predominantly Antibody Deficiency v0.119 BTK Zornitza Stark Tag treatable tag was added to gene: BTK.
Mendeliome v1.343 BTK Zornitza Stark Tag treatable tag was added to gene: BTK.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Marked gene: BTK as ready
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Tag treatable tag was added to gene: BTK.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark commented on gene: BTK: Well established gene-disease association.

Childhood onset.

Treatable with IVIG.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.288 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Genomic newborn screening: BabyScreen+ v0.288 BCS1L Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.288 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from Complex 3 deficiency to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Genomic newborn screening: BabyScreen+ v0.287 BCS1L Zornitza Stark Classified gene: BCS1L as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.287 BCS1L Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.286 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Aminoacidopathy v1.0 BCKDK Zornitza Stark Tag treatable tag was added to gene: BCKDK.
Intellectual disability syndromic and non-syndromic v0.4957 BCKDK Zornitza Stark Tag treatable tag was added to gene: BCKDK.
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Tag treatable tag was added to gene: BCKDK.
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark commented on gene: BCKDK: Confirmatory non-genetic testing: serum amino acids, urine organic acids
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.286 BCHE Zornitza Stark Tag for review tag was added to gene: BCHE.
Genomic newborn screening: BabyScreen+ v0.286 BCHE Zornitza Stark reviewed gene: BCHE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Butyrylcholinesterase deficiency, MIM# 617936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.286 AUH Zornitza Stark Marked gene: AUH as ready
Genomic newborn screening: BabyScreen+ v0.286 AUH Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.286 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I to 3-methylglutaconic aciduria, type I , MIM#250950
Genomic newborn screening: BabyScreen+ v0.285 AUH Zornitza Stark Classified gene: AUH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.285 AUH Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.284 AUH Zornitza Stark reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV to Mucolipidosis IV, MIM# 252650
Genomic newborn screening: BabyScreen+ v0.283 MCOLN1 Zornitza Stark Classified gene: MCOLN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.283 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Marked gene: SHOX as ready
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Classified gene: SHOX as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Marked gene: SLC10A7 as ready
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Classified gene: SLC10A7 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Classified gene: SLC29A3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Classified gene: SMAD4 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Classified gene: SMARCAL1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Marked gene: TBX15 as ready
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Gene: tbx15 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Classified gene: TBX15 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Gene: tbx15 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.282 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Genomic newborn screening: BabyScreen+ v0.282 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.282 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from Wilson disease to Wilson disease MIM#277900
Genomic newborn screening: BabyScreen+ v0.281 ATP7B Zornitza Stark Tag for review tag was added to gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.281 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease MIM#277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Miscellaneous Metabolic Disorders v1.23 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Mendeliome v1.343 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Hair disorders v0.64 ASL Zornitza Stark Marked gene: ASL as ready
Hair disorders v0.64 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Hair disorders v0.64 ASL Zornitza Stark Phenotypes for gene: ASL were changed from Argininosuccinic aciduria, 207900 to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Hair disorders v0.63 ASL Zornitza Stark Publications for gene: ASL were set to 31332722
Hair disorders v0.62 ASL Zornitza Stark changed review comment from: Intellectual disability is a feature of this metabolic condition.
Sources: Expert list; to: Trichorrhexis nodosa; dry brittle hair.
Sources: Expert list
Hair disorders v0.62 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Intellectual disability syndromic and non-syndromic v0.4957 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Regression v0.507 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Mendeliome v1.343 ARSB Zornitza Stark Tag clinical trial tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Marked gene: ASL as ready
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.212 ARSB Zornitza Stark Marked gene: ARSB as ready
Skeletal dysplasia v0.212 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Skeletal dysplasia v0.212 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Skeletal dysplasia v0.211 ARSB Zornitza Stark Publications for gene: ARSB were set to
Skeletal dysplasia v0.210 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Intellectual disability syndromic and non-syndromic v0.4957 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Lysosomal Storage Disorder v1.6 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Macrocephaly_Megalencephaly v0.121 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Mendeliome v1.343 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ v0.281 ARSB Zornitza Stark Marked gene: ARSB as ready
Genomic newborn screening: BabyScreen+ v0.281 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.281 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) to Mucopolysaccharidosis VI (MPS6, MIM# 253200
Genomic newborn screening: BabyScreen+ v0.280 ARSB Zornitza Stark Publications for gene: ARSB were set to
Genomic newborn screening: BabyScreen+ v0.279 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ v0.279 ARSB Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31142378; Phenotypes: Mucopolysaccharidosis VI (MPS6, MIM# 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4957 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Intellectual disability syndromic and non-syndromic v0.4957 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Hyperammonaemia v0.6 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Miscellaneous Metabolic Disorders v1.23 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Intellectual disability syndromic and non-syndromic v0.4957 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800
Hereditary Spastic Paraplegia - paediatric v1.48 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Regression v0.507 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Regression v0.507 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4956 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.507 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800
Intellectual disability syndromic and non-syndromic v0.4955 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4955 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Regression v0.506 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.505 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Regression v0.505 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1675 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Mendeliome v1.343 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Intellectual disability syndromic and non-syndromic v0.4955 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Mendeliome v1.343 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Marked gene: AHCY as ready
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Mode of inheritance for gene: AHCY was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.278 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Genomic newborn screening: BabyScreen+ v0.278 AHCY Zornitza Stark reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.278 AGL Zornitza Stark Marked gene: AGL as ready
Genomic newborn screening: BabyScreen+ v0.278 AGL Zornitza Stark Gene: agl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.278 AGL Zornitza Stark Publications for gene: AGL were set to
Genomic newborn screening: BabyScreen+ v0.277 AGL Zornitza Stark edited their review of gene: AGL: Changed publications: 20631546, 27106217
Genomic newborn screening: BabyScreen+ v0.277 AGL Zornitza Stark reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631546; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.70 HOXD13 Zornitza Stark Marked gene: HOXD13 as ready
Hand and foot malformations v0.70 HOXD13 Zornitza Stark Gene: hoxd13 has been classified as Green List (High Evidence).
Hand and foot malformations v0.70 HOXD13 Zornitza Stark Phenotypes for gene: HOXD13 were changed from brachydactyly to Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200; Syndactyly, type V, MIM# 186300; Synpolydactyly 1, MIM# 186000; Brachydactyly-syndactyly syndrome, MIM# 610713
Hand and foot malformations v0.69 HOXD13 Zornitza Stark Publications for gene: HOXD13 were set to 12649808; 17236141
Hand and foot malformations v0.68 HOXD13 Zornitza Stark Mode of inheritance for gene: HOXD13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hand and foot malformations v0.67 HOXD13 Zornitza Stark Mode of inheritance for gene: HOXD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hand and foot malformations v0.66 HOXD13 Zornitza Stark Classified gene: HOXD13 as Green List (high evidence)
Hand and foot malformations v0.66 HOXD13 Zornitza Stark Gene: hoxd13 has been classified as Green List (High Evidence).
Hand and foot malformations v0.65 HOXD13 Zornitza Stark reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: 34777468, 32509852; Phenotypes: Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200, Syndactyly, type V, MIM# 186300, Synpolydactyly 1, MIM# 186000, Brachydactyly-syndactyly syndrome, MIM# 610713; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hand and foot malformations v0.65 GDF5 Zornitza Stark Marked gene: GDF5 as ready
Hand and foot malformations v0.65 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Hand and foot malformations v0.65 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from brachydactyly to Brachydactyly, type A1, C, MIM# 615072; Brachydactyly, type A2 MIM#112600; Brachydactyly, type C, MIM# 113100; Symphalangism, proximal, 1B, MIM# 615298
Hand and foot malformations v0.64 GDF5 Zornitza Stark Classified gene: GDF5 as Green List (high evidence)
Hand and foot malformations v0.64 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Hand and foot malformations v0.63 GDF5 Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type A1, C, MIM# 615072, Brachydactyly, type A2 MIM#112600, Brachydactyly, type C, MIM# 113100, Symphalangism, proximal, 1B, MIM# 615298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.277 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Genomic newborn screening: BabyScreen+ v0.277 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.277 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400 to Spinal muscular atrophy type 1, MIM#253300
Mendeliome v1.343 SMN1 Zornitza Stark Tag treatable tag was added to gene: SMN1.
Tag clinical trial tag was added to gene: SMN1.
Genomic newborn screening: BabyScreen+ v0.276 SMN1 Zornitza Stark Tag for review tag was added to gene: SMN1.
Tag treatable tag was added to gene: SMN1.
Tag clinical trial tag was added to gene: SMN1.
Genomic newborn screening: BabyScreen+ v0.276 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Cardiomyopathy_Paediatric v0.134 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Rhabdomyolysis and Metabolic Myopathy v0.90 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Mitochondrial disease v0.836 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Mendeliome v1.343 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Fatty Acid Oxidation Defects v1.8 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Genomic newborn screening: BabyScreen+ v0.276 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Genomic newborn screening: BabyScreen+ v0.276 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31372341, 32885845; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Marked gene: GALE as ready
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.23 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Intellectual disability syndromic and non-syndromic v0.4955 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Mendeliome v1.343 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Cataract v0.345 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Miscellaneous Metabolic Disorders v1.23 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Mendeliome v1.343 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Liver Failure_Paediatric v1.19 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Dystonia - complex v0.217 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Intellectual disability syndromic and non-syndromic v0.4955 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Mendeliome v1.343 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Cholestasis v0.236 GALT Zornitza Stark Marked gene: GALT as ready
Cholestasis v0.236 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Cholestasis v0.236 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Cataract v0.345 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Marked gene: GALT as ready
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Intellectual disability syndromic and non-syndromic v0.4955 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Palmoplantar Keratoderma and Erythrokeratoderma v0.126 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Mendeliome v1.343 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Marked gene: TAT as ready
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 PCCB Zornitza Stark Marked gene: PCCB as ready
Genomic newborn screening: BabyScreen+ v0.276 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Aminoacidopathy v1.0 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Hyperammonaemia v0.6 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Cardiomyopathy_Paediatric v0.134 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Stroke v1.7 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Dystonia - complex v0.217 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Intellectual disability syndromic and non-syndromic v0.4955 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Regression v0.505 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Mendeliome v1.343 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Genetic Epilepsy v0.1675 PCCB Zornitza Stark Tag review tag was added to gene: PCCB.
Genomic newborn screening: BabyScreen+ v0.276 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from Propionicacidemia to Propionicacidaemia, MIM#606054
Genomic newborn screening: BabyScreen+ v0.275 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Genomic newborn screening: BabyScreen+ v0.275 PCCB Zornitza Stark reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidaemia, MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Marked gene: PCCA as ready
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Aminoacidopathy v1.0 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Hyperammonaemia v0.6 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Stroke v1.7 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Dystonia - complex v0.217 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Intellectual disability syndromic and non-syndromic v0.4955 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Regression v0.505 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Genetic Epilepsy v0.1675 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Mendeliome v1.343 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionic acidaemia, MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Tag for review tag was added to gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D , MIM#264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Marked gene: QDPR as ready
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Dystonia - complex v0.217 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Intellectual disability syndromic and non-syndromic v0.4955 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Genetic Epilepsy v0.1675 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Neurotransmitter Defects v1.5 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - complex v0.217 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Intellectual disability syndromic and non-syndromic v0.4955 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Regression v0.505 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Genetic Epilepsy v0.1675 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Neurotransmitter Defects v1.5 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Mendeliome v1.343 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Marked gene: PTS as ready
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4955 PAH Zornitza Stark Marked gene: PAH as ready
Intellectual disability syndromic and non-syndromic v0.4955 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4955 PAH Zornitza Stark Phenotypes for gene: PAH were changed from to Phenylketonuria, MIM#261600
Miscellaneous Metabolic Disorders v1.23 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Leukodystrophy - adult onset v0.105 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genetic Epilepsy v0.1675 PAH Zornitza Stark Marked gene: PAH as ready
Genetic Epilepsy v0.1675 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4954 PAH Zornitza Stark Mode of inheritance for gene: PAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4953 PAH Zornitza Stark reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria, MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4953 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genetic Epilepsy v0.1675 PAH Zornitza Stark Phenotypes for gene: PAH were changed from Phenylketonuria, MIM#261600 to Phenylketonuria, MIM#261600
Genetic Epilepsy v0.1674 PAH Zornitza Stark Phenotypes for gene: PAH were changed from to Phenylketonuria, MIM#261600
Mendeliome v1.343 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genetic Epilepsy v0.1673 PAH Zornitza Stark Mode of inheritance for gene: PAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 PAH Zornitza Stark reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria, MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Marked gene: PAH as ready
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Intellectual disability syndromic and non-syndromic v0.4953 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Callosome v0.480 ETFB Zornitza Stark Marked gene: ETFB as ready
Callosome v0.480 ETFB Zornitza Stark Gene: etfb has been classified as Red List (Low Evidence).
Callosome v0.480 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM# 231680
Callosome v0.479 ETFB Zornitza Stark Classified gene: ETFB as Red List (low evidence)
Callosome v0.479 ETFB Zornitza Stark Gene: etfb has been classified as Red List (Low Evidence).
Callosome v0.478 ETFB Zornitza Stark reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.836 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Mendeliome v1.343 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Fatty Acid Oxidation Defects v1.8 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Marked gene: ETFB as ready
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Tag for review tag was added to gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 ETFA Zornitza Stark Marked gene: ETFA as ready
Genomic newborn screening: BabyScreen+ v0.275 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 ETFA Zornitza Stark Publications for gene: ETFA were set to
Hyperammonaemia v0.6 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Rhabdomyolysis and Metabolic Myopathy v0.90 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark changed review comment from: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis; to: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate (PMID 31904027)

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark edited their review of gene: ETFA: Changed publications: 31904027
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NTRK1 David Amor reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NSD1 David Amor reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NR5A1 David Amor reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenocortical insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NR3C2 David Amor reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: NR3C2 associated pseudohypoaldosteronism, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NR0B1 David Amor reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital adrenal hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.274 NPHS1 David Amor reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPHP4 David Amor reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPHP3 David Amor reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPHP1 David Amor reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, Nephronophthisis 1, juvenile, Senior-Loken syndrome-1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPC2 David Amor reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-pick disease, type C2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPC1 David Amor reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-Pick disease, type C, NPC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NOTCH3 David Amor reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NOTCH2 David Amor reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hajdu-Cheney syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NOG David Amor reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2, Multiple synostoses syndrome 1, Stapes ankylosis with broad thumbs and toes, Symphalangism, proximal, 1A, Tarsal-carpal coalition syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NNT David Amor reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26548497; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NKX2-1 David Amor reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, NKX2-1-Related Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NIPBL David Amor reviewed gene: NIPBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NIPAL4 David Amor reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31532840; Phenotypes: Ichthyosis, congenital, autosomal recessive 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NHLRC1 David Amor reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NHEJ1 David Amor reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NGLY1 David Amor reviewed gene: NGLY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 1 (NGLY1-Related Congenital Disorder of Deglycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NF2 David Amor reviewed gene: NF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis type 2 (NF2); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NF1 David Amor reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31010905; Phenotypes: Neurofibromatosis type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NEUROG3 David Amor reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36149814; Phenotypes: NEUROG3 associated syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEU1 David Amor reviewed gene: NEU1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEK8 David Amor reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEK1 David Amor reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEFL David Amor reviewed gene: NEFL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, Charcot-Marie-Tooth disease, type 1F, Charcot-Marie-Tooth disease, type 2E; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEB David Amor reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive, Arthrogryposis multiplex congenita 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NDP David Amor reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.274 NCF2 David Amor reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF2 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NCF1 David Amor reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF1 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NBN David Amor reviewed gene: NBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NAGS David Amor reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NAGLU David Amor reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NAGA David Amor reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO9A David Amor reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO7A David Amor reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO6 David Amor reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 22, Deafness, autosomal recessive 37; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO3A David Amor reviewed gene: MYO3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 30; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO15A David Amor reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYH9 David Amor reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 MYH7 David Amor reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various myopathies and cardiomyopathies; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYH3 David Amor reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) (AD), Arthrogryposis, distal, type 2B3 (Sheldon-Hall) (AD), Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (AR); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYH2 David Amor reviewed gene: MYH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYH14 David Amor reviewed gene: MYH14: Rating: ; Mode of pathogenicity: None; Publications: PMID: 34681017; Phenotypes: Deafness, autosomal dominant 4A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 MYCN David Amor reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 MYBPC1 David Amor reviewed gene: MYBPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lethal congenital contracture syndrome 4 (AR), Arthrogryposis, distal, type 1B; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MVK David Amor reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32066461; Phenotypes: Hyper-IgD syndrome / mevalonate kinase deficiciency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 XPA Lilian Downie reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 XPC Lilian Downie edited their review of gene: XPC: Changed publications: PMID: 26255934
Genomic newborn screening: BabyScreen+ v0.274 XPC Lilian Downie reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22044607, PMID: 32918226; Phenotypes: Xeroderma pigmentosum, group C MIM#278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.155 TRAF3 Peter McNaughton gene: TRAF3 was added
gene: TRAF3 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: TRAF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF3 were set to PMID: 35960817
Phenotypes for gene: TRAF3 were set to hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome
Review for gene: TRAF3 was set to GREEN
Added comment: Nine individuals from five unrelated families with childhood-onset immune diseases and recurrent infections. All patients had suffered recurrent ear and sinopulmonary infections, including pneumonias from encapsulated bacteria Streptococcus pneumoniae and Haemophilus influenza, resulting in early-onset bronchiectasis in several individuals
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.274 MUTYH David Amor reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MUTYH Polyposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYSM1 David Amor reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MUSK David Amor reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndrome-9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTTP David Amor reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTRR David Amor reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MSX2 David Amor reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis, parietal foramina; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 MRAP David Amor reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30817990; Phenotypes: Glucocorticoid deficiency 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTM1 David Amor edited their review of gene: MTM1: Changed phenotypes: X-linked myotubular myopathy
Genomic newborn screening: BabyScreen+ v0.274 MTR David Amor reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTM1 David Amor reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.274 MPZ David Amor reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT1B (AD), Dejerine-Sottas disease (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MPV17 David Amor reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MPL David Amor reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32703794; Phenotypes: Congenital amegakaryocytic thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MPI David Amor reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, 19101627; Phenotypes: Congenital disorder of glycosylation 1b; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.274 MPDU1 David Amor reviewed gene: MPDU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MOCS2 David Amor reviewed gene: MOCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: molybdenum cofactor deficiency B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MOCS1 David Amor reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20385644, PMID: 26343839; Phenotypes: molybdenum cofactor deficiency A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MLYCD David Amor reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malonyl-CoA decarboxylase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 ZAP70 Lilian Downie reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301777; Phenotypes: Immunodeficiency MIM#176947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 ZEB2 Lilian Downie reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301585; Phenotypes: Mowat-Wilson syndrome MIM# 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 ZIC2 Lilian Downie reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442327; Phenotypes: holoprosencephaly MIM#603073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 ZIC3 Lilian Downie reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442328, PMID: 27406248; Phenotypes: X linked heterotaxy and congenital heart defects MIM:306955; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4953 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Callosome v0.478 ETFA Zornitza Stark Marked gene: ETFA as ready
Callosome v0.478 ETFA Zornitza Stark Gene: etfa has been classified as Red List (Low Evidence).
Callosome v0.478 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM# 231680
Callosome v0.477 ETFA Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.476 ETFA Zornitza Stark Classified gene: ETFA as Red List (low evidence)
Callosome v0.476 ETFA Zornitza Stark Gene: etfa has been classified as Red List (Low Evidence).
Callosome v0.475 ETFA Zornitza Stark reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.836 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Mendeliome v1.343 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Fatty Acid Oxidation Defects v1.8 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Hyperammonaemia v0.6 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Rhabdomyolysis and Metabolic Myopathy v0.90 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Hereditary Neuropathy - complex v0.135 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Callosome v0.475 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Callosome v0.475 ETFDH Zornitza Stark Gene: etfdh has been classified as Red List (Low Evidence).
Callosome v0.475 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM#231680
Callosome v0.474 ETFDH Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.278 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Intellectual disability syndromic and non-syndromic v0.4953 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Callosome v0.473 ETFDH Zornitza Stark Classified gene: ETFDH as Red List (low evidence)
Callosome v0.473 ETFDH Zornitza Stark Gene: etfdh has been classified as Red List (Low Evidence).
Callosome v0.472 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.836 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Mendeliome v1.343 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.274 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Genomic newborn screening: BabyScreen+ v0.274 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.274 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from Glutaric acidemia IIC, MIM#231680 to Glutaric acidemia IIC, MIM#231680
Genomic newborn screening: BabyScreen+ v0.273 ETFDH Zornitza Stark Publications for gene: ETFDH were set to
Fatty Acid Oxidation Defects v1.8 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.272 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.272 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Liver Failure_Paediatric v1.19 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Cardiomyopathy_Paediatric v0.134 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Rhabdomyolysis and Metabolic Myopathy v0.90 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Hereditary Neuropathy - complex v0.135 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Intellectual disability syndromic and non-syndromic v0.4953 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Mitochondrial disease v0.836 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Mendeliome v1.343 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Fatty Acid Oxidation Defects v1.8 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Marked gene: HADHB as ready
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Liver Failure_Paediatric v1.19 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Cardiomyopathy_Paediatric v0.134 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Rhabdomyolysis and Metabolic Myopathy v0.90 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Hereditary Neuropathy - complex v0.135 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Intellectual disability syndromic and non-syndromic v0.4953 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Mitochondrial disease v0.836 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Mendeliome v1.343 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.272 HADHA Zornitza Stark Marked gene: HADHA as ready
Genomic newborn screening: BabyScreen+ v0.272 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.272 HADHA Zornitza Stark Publications for gene: HADHA were set to
Genomic newborn screening: BabyScreen+ v0.271 HADHA Zornitza Stark changed review comment from: Well established gene-disease association.

Clinical presentation is characterised by early-onset cardiomyopathy, hypoglycaemia, neuropathy, and pigmentary retinopathy, and sudden death

Treatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin; to: Well established gene-disease association.

Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy.

Treatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin
Fatty Acid Oxidation Defects v1.8 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.271 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.271 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30029694; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Hyperammonaemia v0.6 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Intellectual disability syndromic and non-syndromic v0.4953 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Regression v0.505 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Mendeliome v1.343 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Genomic newborn screening: BabyScreen+ v0.271 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Genomic newborn screening: BabyScreen+ v0.271 MMAB Zornitza Stark reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Hyperammonaemia v0.6 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Intellectual disability syndromic and non-syndromic v0.4953 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Regression v0.505 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Mendeliome v1.343 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Marked gene: MMAA as ready
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.271 MUT Zornitza Stark Marked gene: MUT as ready
Genomic newborn screening: BabyScreen+ v0.271 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Mendeliome v1.343 MUT Zornitza Stark Tag new gene name tag was added to gene: MUT.
Cardiomyopathy_Paediatric v0.134 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Stroke v1.7 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Intellectual disability syndromic and non-syndromic v0.4953 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Regression v0.505 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Mendeliome v1.343 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Genomic newborn screening: BabyScreen+ v0.271 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, MIM# 251000; Methylmalonic aciduria, mut(0) type to Methylmalonic aciduria, mut(0) type, MIM# 251000
Genomic newborn screening: BabyScreen+ v0.270 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Genomic newborn screening: BabyScreen+ v0.270 MUT Zornitza Stark reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Liver Failure_Paediatric v1.19 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Rhabdomyolysis and Metabolic Myopathy v0.90 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Intellectual disability syndromic and non-syndromic v0.4953 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Mitochondrial disease v0.836 ACADM Zornitza Stark Tag acadm was removed from gene: ACADM.
Tag treatable tag was added to gene: ACADM.
Mitochondrial disease v0.836 ACADM Zornitza Stark Tag acadm tag was added to gene: ACADM.
Mendeliome v1.343 ACADM Zornitza Stark Tag acadm was removed from gene: ACADM.
Tag treatable tag was added to gene: ACADM.
Mendeliome v1.343 ACADM Zornitza Stark Tag acadm tag was added to gene: ACADM.
Fatty Acid Oxidation Defects v1.8 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Marked gene: ACADM as ready
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 ZMPSTE24 Lilian Downie reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28050601; Phenotypes: Restrictive dermopathy 1 MIM:275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 ZNF469 Lilian Downie changed review comment from: Well established gene-disease association.

Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.

Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success; to: Well established gene-disease association.

Severe, causes blindness in the majority in early childhood but variable. Corneal thinning. Connective tissue disease spectrum, can have systemic features. Ocular rupture causes blindness.

Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success
Genomic newborn screening: BabyScreen+ v0.270 ZNF469 Lilian Downie changed review comment from: Well established gene-disease association.

Severe, can cause blindness in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.

Treatment: no, only lifestyle modification (rupture can occur from minor trauma) and protective eyewear.; to: Well established gene-disease association.

Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.

Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success
Genomic newborn screening: BabyScreen+ v0.270 ZNF469 Lilian Downie reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31496642; Phenotypes: Brittle cornea syndrome 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MLC1 David Amor reviewed gene: MLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: megalencephalic leukoencephalopathy with subcortical cysts-1 (MLC1); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.121 NANS Krithika Murali gene: NANS was added
gene: NANS was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NANS were set to 34163424
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442; NANS-CDG
Review for gene: NANS was set to GREEN
Added comment: Short stature with short limbs is a feature of this condition with intrauterine growth restriction of the limbs reported.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 NBAS Krithika Murali gene: NBAS was added
gene: NBAS was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 33042920
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly - MIM#614800
Review for gene: NBAS was set to GREEN
Added comment: Antenatal detection of limb shortening has been reported.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 NPR2 Krithika Murali gene: NPR2 was added
gene: NPR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR2 were set to 31555216; 16384845; 15146390; 22870295; 24057292; 24259409; 16384845; 24471569
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia 1, Maroteaux type - MIM#602875
Review for gene: NPR2 was set to GREEN
Added comment: Biallelic LoF variants associated with AMDM, a disorder characterised by severe dwarfism with disproportionate shortening of the middle and distal segments of the limbs. Shortening of the limbs may be detected antenatally.
Sources: Expert list, Literature
Genomic newborn screening: BabyScreen+ v0.270 MKS1 David Amor reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MKKS David Amor reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McKusick-Kaufman syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 LRP4 David Amor changed review comment from: Gene-disease association: strong but <1% of all CMS (very rare)

Onset:infancy or childhood

Treatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful; to: Gene-disease association: strong but <1% of all CMS (very rare)

Onset:infancy or childhood

Treatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful
Genomic newborn screening: BabyScreen+ v0.270 LAMB3 David Amor edited their review of gene: LAMB3: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.270 LAMB3 David Amor changed review comment from: Gene-disease association: well established

Age of onset: congenital

Treatment: non specific but early detection may be beneficial; to: Gene-disease association: well established

Age of onset: congenital

Treatment: non specific but early detection may be beneficial
Genomic newborn screening: BabyScreen+ v0.270 LAMA2 David Amor edited their review of gene: LAMA2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.270 MITF David Amor reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wardenburg syndrome type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.270 MGP David Amor reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MGAT2 David Amor reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CDG-IIa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MFSD8 David Amor reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis-7 (CLN7); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MFN2 David Amor reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth Neuropathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MEN1 David Amor reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1 (MEN1); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.270 MEGF10 David Amor reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MEFV David Amor reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial mediteranean fever; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MED25 David Amor reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MED12 David Amor reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome, intellectual disability, Lujan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.270 MECP2 David Amor reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.270 MCPH1 David Amor reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Hyperammonaemia v0.6 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Intellectual disability syndromic and non-syndromic v0.4953 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Regression v0.505 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Mendeliome v1.343 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Genomic newborn screening: BabyScreen+ v0.270 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Genomic newborn screening: BabyScreen+ v0.270 IVD Zornitza Stark reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark changed review comment from: Well established gene-disease association.

Variable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities

Treatment: biotin

Non-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma; to: Well established gene-disease association.

Variable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities. Phenotype can be difficult to predict from genotype, however note currently included in tNBS.

Treatment: biotin

Non-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma
Miscellaneous Metabolic Disorders v1.23 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Intellectual disability syndromic and non-syndromic v0.4953 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Regression v0.505 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Genetic Epilepsy v0.1672 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Mendeliome v1.343 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Marked gene: BTD as ready
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency, MIM 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Intellectual disability syndromic and non-syndromic v0.4953 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Regression v0.505 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Mitochondrial disease v0.836 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Genetic Epilepsy v0.1672 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Mendeliome v1.343 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Marked gene: HLCS as ready
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, MIM# 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Dystonia - complex v0.217 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Intellectual disability syndromic and non-syndromic v0.4953 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Callosome v0.472 GCDH Zornitza Stark Marked gene: GCDH as ready
Callosome v0.472 GCDH Zornitza Stark Gene: gcdh has been classified as Red List (Low Evidence).
Callosome v0.472 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from to Glutaric aciduria, type I MIM#231670
Regression v0.505 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Callosome v0.471 GCDH Zornitza Stark Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.470 GCDH Zornitza Stark Classified gene: GCDH as Red List (low evidence)
Callosome v0.470 GCDH Zornitza Stark Gene: gcdh has been classified as Red List (Low Evidence).
Callosome v0.469 GCDH Zornitza Stark reviewed gene: GCDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.343 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Marked gene: GCDH as ready
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33069577; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Tag for review tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark changed review comment from: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.; to: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.

Note excluded from reproductive carrier screening tests due to poor mappability, for review.
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Marked gene: CBS as ready
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.23 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Stroke v1.7 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Intellectual disability syndromic and non-syndromic v0.4953 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Regression v0.505 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Mendeliome v1.343 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Aortopathy_Connective Tissue Disorders v1.72 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types to Homocystinuria (MIM# 236200)
Genomic newborn screening: BabyScreen+ v0.269 CBS Zornitza Stark Publications for gene: CBS were set to
Genomic newborn screening: BabyScreen+ v0.268 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ v0.268 CBS Zornitza Stark reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27778219; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Tag treatable tag was added to gene: CFTR.
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Marked gene: CFTR as ready
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark changed review comment from: Well established gene-disease association.

Typically presents in infancy and early childhood.

Early treatment improves outcomes.

Non-genetic confirmatory testing available.; to: Well established gene-disease association.

Typically presents in infancy and early childhood.

Early treatment improves outcomes.

Non-genetic confirmatory testing available: sweat test.
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Tag for review tag was added to gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Miscellaneous Metabolic Disorders v1.23 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Intellectual disability syndromic and non-syndromic v0.4953 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Regression v0.505 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Genetic Epilepsy v0.1672 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Mendeliome v1.343 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Genomic newborn screening: BabyScreen+ v0.268 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Genomic newborn screening: BabyScreen+ v0.268 MMADHC Zornitza Stark reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4953 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Intellectual disability syndromic and non-syndromic v0.4953 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4953 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Miscellaneous Metabolic Disorders v1.23 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Stroke v1.7 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Syndromic Retinopathy v0.196 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Intellectual disability syndromic and non-syndromic v0.4952 MMACHC Zornitza Stark Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.344 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Callosome v0.469 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Callosome v0.469 MMACHC Zornitza Stark Gene: mmachc has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4951 MMACHC Zornitza Stark reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4951 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Callosome v0.469 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Callosome v0.468 MMACHC Zornitza Stark Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.467 MMACHC Zornitza Stark Classified gene: MMACHC as Red List (low evidence)
Callosome v0.467 MMACHC Zornitza Stark Gene: mmachc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Callosome v0.466 MMACHC Zornitza Stark reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Mendeliome v1.343 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Cardiomyopathy_Paediatric v0.134 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Mitochondrial disease v0.836 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Mendeliome v1.343 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Fatty Acid Oxidation Defects v1.8 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.268 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.268 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33085788, 32885845; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.134 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Rhabdomyolysis and Metabolic Myopathy v0.90 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Mitochondrial disease v0.836 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Fatty Acid Oxidation Defects v1.8 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Mendeliome v1.343 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.267 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to gNBS. Sources: Expert Review
pharmacogenomic tags were added to gene: MT-RNR1.
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Aminoglycoside sensitivity
Review for gene: MT-RNR1 was set to GREEN
Added comment: The following variants have been associated with aminoglycoside-induced deafness:
m.1555A>G
m.1005T>C
m.1095T>C

Alerts can be placed in medical records to avoid aminoglycoside administration.
Sources: Expert Review
Proteinuria v0.210 MEFV Elena Savva Classified gene: MEFV as Amber List (moderate evidence)
Proteinuria v0.210 MEFV Elena Savva Gene: mefv has been classified as Amber List (Moderate Evidence).
Proteinuria v0.209 MEFV Elena Savva gene: MEFV was added
gene: MEFV was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEFV were set to PMID: 27956278
Phenotypes for gene: MEFV were set to Familial Mediterranean fever MIM#134610; Familial Mediterranean fever MIM#249100; Neutrophilic dermatosis, acute febrile MIM#608068
Mode of pathogenicity for gene: MEFV was set to Other
Review for gene: MEFV was set to AMBER
Added comment: PMID: 27956278 - p.Met694Ile single variant in the homozygous state has been reported as enriched within individuals with renal amyloidosis and FMF.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.266 COQ8B John Christodoulou reviewed gene: COQ8B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COQ8A John Christodoulou reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COQ7 John Christodoulou reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COQ4 John Christodoulou reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COLQ John Christodoulou reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN8 John Christodoulou reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN6 John Christodoulou reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN5 John Christodoulou reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN3 John Christodoulou reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.121 PAM16 Krithika Murali gene: PAM16 was added
gene: PAM16 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Review for gene: PAM16 was set to GREEN
Added comment: Severe prenatal short stature, narrow chest, prominent abdomen, and short limbs are reported features.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 PCNT Krithika Murali gene: PCNT was added
gene: PCNT was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 34978779
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II - MIM#210720
Review for gene: PCNT was set to GREEN
Added comment: Primordial dwarfism with significant prenatal growth restriction and mesomelia reported.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 POC1A Krithika Murali gene: POC1A was added
gene: POC1A was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 31630891; 31630891; 30569574
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
Review for gene: POC1A was set to GREEN
Added comment: Primordial dwarfism characterised by disproportionate severe short stature prenatal in onset.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 POP1 Krithika Murali gene: POP1 was added
gene: POP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POP1 were set to 21455487; 27380734; 28067412
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561
Review for gene: POP1 was set to GREEN
Added comment: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 ROR2 Krithika Murali gene: ROR2 was added
gene: ROR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR2 were set to 20301418; 31617258; 24932600
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive - MIM#268310
Review for gene: ROR2 was set to GREEN
Added comment: Antenatal findings of acromesomelia reported with Robinow syndrome.
Sources: Expert list, Literature
Genomic newborn screening: BabyScreen+ v0.266 CHRNG John Christodoulou reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRNE John Christodoulou reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRND John Christodoulou changed review comment from: congenital myasthenia syndrome

anti cholinesterase inhibitors partially effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary; to: congenital myasthenia syndrome

anti cholinesterase inhibitors partially effective; 3,4-DAP effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary
Genomic newborn screening: BabyScreen+ v0.266 CHRND John Christodoulou reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRNA1 John Christodoulou reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHAT John Christodoulou reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CA5A John Christodoulou reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 BTK John Christodoulou reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.266 BCS1L John Christodoulou reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 BCKDK John Christodoulou reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 BCHE John Christodoulou reviewed gene: BCHE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 AUH John Christodoulou reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from Factor V and Factor VIII deficiency, combined to Factor V and factor VIII, combined deficiency of, MIM# 613625
Genomic newborn screening: BabyScreen+ v0.265 MCFD2 Zornitza Stark Tag for review tag was added to gene: MCFD2.
Mendeliome v1.343 MC2R Zornitza Stark Tag treatable tag was added to gene: MC2R.
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Marked gene: MC2R as ready
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Gene: mc2r has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Tag treatable tag was added to gene: MC2R.
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.265 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Genomic newborn screening: BabyScreen+ v0.265 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.265 MBTPS2 Zornitza Stark Phenotypes for gene: MBTPS2 were changed from Ichthyosis follicularis, alopecia & photophobia to IFAP syndrome with or without BRESHECK syndrome MIM#308205
Genomic newborn screening: BabyScreen+ v0.264 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.264 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.263 MARVELD2 Zornitza Stark Marked gene: MARVELD2 as ready
Genomic newborn screening: BabyScreen+ v0.263 MARVELD2 Zornitza Stark Gene: marveld2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.263 MARVELD2 Zornitza Stark Phenotypes for gene: MARVELD2 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 49, MIM# 610153
Genomic newborn screening: BabyScreen+ v0.262 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Genomic newborn screening: BabyScreen+ v0.262 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.262 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 4, MIM# 615280
Genomic newborn screening: BabyScreen+ v0.261 MAP2K2 Zornitza Stark Classified gene: MAP2K2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.261 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.260 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Genomic newborn screening: BabyScreen+ v0.260 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.260 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 3, MIM# 615279
Genomic newborn screening: BabyScreen+ v0.259 MAP2K1 Zornitza Stark Classified gene: MAP2K1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.259 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4951 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Regression v0.505 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Lysosomal Storage Disorder v1.6 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Mendeliome v1.343 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Genomic newborn screening: BabyScreen+ v0.258 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Genomic newborn screening: BabyScreen+ v0.258 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.258 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha to Mannosidosis, alpha-, types I and II, MIM# 248500
Genomic newborn screening: BabyScreen+ v0.257 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Genomic newborn screening: BabyScreen+ v0.257 MAGI2 Zornitza Stark Tag for review tag was added to gene: MAGI2.
Genomic newborn screening: BabyScreen+ v0.257 MAGI2 Zornitza Stark reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.257 MAFB Zornitza Stark Marked gene: MAFB as ready
Genomic newborn screening: BabyScreen+ v0.257 MAFB Zornitza Stark Gene: mafb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.257 MAFB Zornitza Stark Phenotypes for gene: MAFB were changed from Multicentric carpotarsal osteolysis syndrome to Multicentric carpotarsal osteolysis syndrome (MIM#166300)
Genomic newborn screening: BabyScreen+ v0.256 MAFB Zornitza Stark Publications for gene: MAFB were set to
Genomic newborn screening: BabyScreen+ v0.255 MAFB Zornitza Stark Tag for review tag was added to gene: MAFB.
Genomic newborn screening: BabyScreen+ v0.255 MAFB Zornitza Stark changed review comment from: Two case reports of successful treatment with cyclosporin.

For review.; to: Two case reports of successful treatment (esp of nephropathy) with cyclosporin.

For review.
Genomic newborn screening: BabyScreen+ v0.255 MAFB Zornitza Stark reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33975323; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.255 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Genomic newborn screening: BabyScreen+ v0.255 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.255 MAD2L2 Zornitza Stark Publications for gene: MAD2L2 were set to
Genomic newborn screening: BabyScreen+ v0.254 MAD2L2 Zornitza Stark Classified gene: MAD2L2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.254 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.155 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Mendeliome v1.343 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Bleeding and Platelet Disorders v1.16 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Genomic newborn screening: BabyScreen+ v0.253 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Genomic newborn screening: BabyScreen+ v0.253 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Genomic newborn screening: BabyScreen+ v0.253 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.253 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC to Cutis laxa, autosomal recessive, type IC (MIM# 613177)
Genomic newborn screening: BabyScreen+ v0.252 LTBP4 Zornitza Stark Classified gene: LTBP4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.252 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.251 LTBP4 Zornitza Stark reviewed gene: LTBP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM# 613177); Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.251 LRTOMT Zornitza Stark Marked gene: LRTOMT as ready
Genomic newborn screening: BabyScreen+ v0.251 LRTOMT Zornitza Stark Gene: lrtomt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.251 LRTOMT Zornitza Stark Phenotypes for gene: LRTOMT were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 63, MIM# 611451
Genomic newborn screening: BabyScreen+ v0.250 LRRC6 Zornitza Stark Marked gene: LRRC6 as ready
Genomic newborn screening: BabyScreen+ v0.250 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.250 LRRC6 Zornitza Stark Phenotypes for gene: LRRC6 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 19, MIM# 614935
Genomic newborn screening: BabyScreen+ v0.249 LRRC6 Zornitza Stark Classified gene: LRRC6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.249 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.248 LRRC6 Zornitza Stark reviewed gene: LRRC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.248 MCOLN1 David Amor reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.248 LRSAM1 Zornitza Stark Marked gene: LRSAM1 as ready
Genomic newborn screening: BabyScreen+ v0.248 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.248 LRSAM1 Zornitza Stark Phenotypes for gene: LRSAM1 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
Genomic newborn screening: BabyScreen+ v0.247 LRSAM1 Zornitza Stark Mode of inheritance for gene: LRSAM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.246 LRSAM1 Zornitza Stark Classified gene: LRSAM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.246 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.245 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Genomic newborn screening: BabyScreen+ v0.245 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.245 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from Leigh syndrome to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Genomic newborn screening: BabyScreen+ v0.244 LRPPRC Zornitza Stark Classified gene: LRPPRC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.244 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.243 LRPPRC Zornitza Stark reviewed gene: LRPPRC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.243 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Genomic newborn screening: BabyScreen+ v0.243 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.243 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome to Osteoporosis-pseudoglioma syndrome, MIM# 259770
Genomic newborn screening: BabyScreen+ v0.242 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.241 LRP5 Zornitza Stark Tag for review tag was added to gene: LRP5.
Genomic newborn screening: BabyScreen+ v0.241 LRP5 Zornitza Stark reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.241 MCFD2 David Amor changed review comment from: Gene-disease association: strong but rare.

Onset: birth

Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?; to: Gene-disease association: strong but rare.

Onset: birth

Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?
Genomic newborn screening: BabyScreen+ v0.241 MCFD2 David Amor reviewed gene: MCFD2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Combine FV and FVIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.241 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Genomic newborn screening: BabyScreen+ v0.241 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.241 LRP4 Zornitza Stark Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304 to Myasthenic syndrome, congenital, 17 , MIM#616304
Genomic newborn screening: BabyScreen+ v0.240 LRP4 Zornitza Stark Tag for review tag was added to gene: LRP4.
Genomic newborn screening: BabyScreen+ v0.240 LRP4 Zornitza Stark reviewed gene: LRP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.240 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Genomic newborn screening: BabyScreen+ v0.240 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.240 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome, MIM#222448
Genomic newborn screening: BabyScreen+ v0.239 LRP2 Zornitza Stark Classified gene: LRP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.239 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.238 LRP2 Zornitza Stark reviewed gene: LRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.238 LOXHD1 Zornitza Stark Marked gene: LOXHD1 as ready
Genomic newborn screening: BabyScreen+ v0.238 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.238 LOXHD1 Zornitza Stark Phenotypes for gene: LOXHD1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 77, MIM# 613079
Genomic newborn screening: BabyScreen+ v0.237 MC2R David Amor reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial glucocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.237 LOXHD1 Zornitza Stark reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77, MIM# 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.237 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Genomic newborn screening: BabyScreen+ v0.237 LMX1B Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.237 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail patella syndrome to Nail-patella syndrome, MIM# 161200, MONDO:0008061
Genomic newborn screening: BabyScreen+ v0.236 LMX1B Zornitza Stark Classified gene: LMX1B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.236 LMX1B Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.235 LMX1B Zornitza Stark reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome, MIM# 161200, MONDO:0008061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.235 LMOD3 Zornitza Stark Marked gene: LMOD3 as ready
Genomic newborn screening: BabyScreen+ v0.235 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.235 LMOD3 Zornitza Stark Phenotypes for gene: LMOD3 were changed from Nemaline myopathy to Nemaline myopathy 10, MIM# 616165
Genomic newborn screening: BabyScreen+ v0.234 LMOD3 Zornitza Stark Classified gene: LMOD3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.234 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.233 LMOD3 Zornitza Stark reviewed gene: LMOD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10, MIM# 616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Intellectual disability syndromic and non-syndromic v0.4951 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Mendeliome v1.343 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.233 LITAF Zornitza Stark Marked gene: LITAF as ready
Genomic newborn screening: BabyScreen+ v0.233 LITAF Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.233 LITAF Zornitza Stark Phenotypes for gene: LITAF were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1C, MIM# 601098
Genomic newborn screening: BabyScreen+ v0.232 LITAF Zornitza Stark Mode of pathogenicity for gene: LITAF was changed from to None
Genomic newborn screening: BabyScreen+ v0.231 LITAF Zornitza Stark Classified gene: LITAF as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.231 LITAF Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.230 LIPA Zornitza Stark Marked gene: LIPA as ready
Genomic newborn screening: BabyScreen+ v0.230 LIPA Zornitza Stark Gene: lipa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.230 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from Wolman syndrome, MIM#278000 to Wolman syndrome, MIM#278000
Liver Failure_Paediatric v1.19 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Lysosomal Storage Disorder v1.6 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Mendeliome v1.343 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Genomic newborn screening: BabyScreen+ v0.229 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Genomic newborn screening: BabyScreen+ v0.229 LIPA Zornitza Stark reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.44 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Severe Combined Immunodeficiency (absent T absent B cells) v1.1 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Combined Immunodeficiency v1.26 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Genomic newborn screening: BabyScreen+ v0.229 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Genomic newborn screening: BabyScreen+ v0.229 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.121 SHOX Krithika Murali gene: SHOX was added
gene: SHOX was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: SHOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOX were set to 29330548
Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700
Review for gene: SHOX was set to GREEN
Added comment: Deletions common. Pseudoautosomal dominant inheritance as SHOX gene located on the pseudoautosomal region of X and Y chromosome.

PMID 29330548 report 5 unrelated infants with antenatally detected isolated short long bones attributable to SHOX haploinsufficiency.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 SLC10A7 Krithika Murali gene: SLC10A7 was added
gene: SLC10A7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363
Review for gene: SLC10A7 was set to GREEN
Added comment: Prenatal diagnosis of short long bones reported in addition to IUGR disproportionately impacting length.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 SLC29A3 Krithika Murali gene: SLC29A3 was added
gene: SLC29A3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 16155931
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome - MIM#602782
Review for gene: SLC29A3 was set to GREEN
Added comment: Intrauterine fractures of long bones and clavicles described.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 SMAD4 Krithika Murali gene: SMAD4 was added
gene: SMAD4 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 28406602
Phenotypes for gene: SMAD4 were set to Myhre syndrome - OMIM#139210; MONDO:0007688
Review for gene: SMAD4 was set to GREEN
Added comment: Myhre syndrome (variants involving codons 496 and 500) can be associated with IUGR and short long bones
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 SMARCAL1 Krithika Murali gene: SMARCAL1 was added
gene: SMARCAL1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCAL1 were set to 15523612; 20301550; 20301550; 17089404; 20036229
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia (MIM#242900)
Review for gene: SMARCAL1 was set to GREEN
Added comment: IUGR with disproportionately short trunk and neck described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 TBX15 Krithika Murali gene: TBX15 was added
gene: TBX15 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX15 were set to 19068278; 24039145
Phenotypes for gene: TBX15 were set to Cousin syndrome - MIM#260660
Review for gene: TBX15 was set to GREEN
Added comment: Rhizomelic/mesomelic limb shortening described and other skeletal anomalies with possibility of prenatal detection.
Sources: Literature, Expert list
Genomic newborn screening: BabyScreen+ v0.229 MBTPS2 David Amor reviewed gene: MBTPS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: IFAP syndrome: ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.229 MARVELD2 David Amor reviewed gene: MARVELD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.229 MAP2K2 David Amor reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.229 MAP2K1 David Amor reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.229 MAN2B1 David Amor reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-mannosidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.229 MAGI2 David Amor reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27932480; Phenotypes: congenital nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.229 MAFB David Amor reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Multicentric carpotarsal osteolysis syndrome, renal failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.229 MAD2L2 David Amor reviewed gene: MAD2L2: Rating: RED; Mode of pathogenicity: None; Publications: 27500492; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.343 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Chromosome Breakage Disorders v1.10 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Bone Marrow Failure v1.21 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Growth failure v1.44 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Congenital hypothyroidism v0.34 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Pituitary hormone deficiency v0.29 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Callosome v0.466 LHX4 Zornitza Stark Marked gene: LHX4 as ready
Callosome v0.466 LHX4 Zornitza Stark Gene: lhx4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.229 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from Severe combined immunodeficiency with sensitivity to ionizing radiation to LIG4 syndrome, MIM# 606593
Genomic newborn screening: BabyScreen+ v0.228 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.466 LHX4 Zornitza Stark Phenotypes for gene: LHX4 were changed from to Pituitary hormone deficiency, combined, 4, MIM# 262700
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark edited their review of gene: LIFR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark Marked gene: LIFR as ready
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
Callosome v0.465 LHX4 Zornitza Stark Mode of inheritance for gene: LHX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.227 LIFR Zornitza Stark edited their review of gene: LIFR: Changed phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
Genomic newborn screening: BabyScreen+ v0.227 LIFR Zornitza Stark Classified gene: LIFR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.227 LIFR Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.226 LIFR Zornitza Stark reviewed gene: LIFR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.464 LHX4 Zornitza Stark Classified gene: LHX4 as Red List (low evidence)
Callosome v0.464 LHX4 Zornitza Stark Gene: lhx4 has been classified as Red List (Low Evidence).
Callosome v0.463 LHX4 Zornitza Stark reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.343 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Marked gene: LHX4 as ready
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Gene: lhx4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Mode of inheritance for gene: LHX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.225 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Genomic newborn screening: BabyScreen+ v0.225 LHX4 Zornitza Stark reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v1.44 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Congenital hypothyroidism v0.34 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Pituitary hormone deficiency v0.29 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Mendeliome v1.343 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Differences of Sex Development v0.267 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.225 LHFPL5 Zornitza Stark Marked gene: LHFPL5 as ready
Genomic newborn screening: BabyScreen+ v0.225 LHFPL5 Zornitza Stark Gene: lhfpl5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.225 LHFPL5 Zornitza Stark Phenotypes for gene: LHFPL5 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 67, MIM# 610265
Genomic newborn screening: BabyScreen+ v0.224 LHFPL5 Zornitza Stark reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 67, MIM# 610265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.224 LEPR Zornitza Stark Marked gene: LEPR as ready
Genomic newborn screening: BabyScreen+ v0.224 LEPR Zornitza Stark Gene: lepr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.224 LEPR Zornitza Stark Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency to Obesity, morbid, due to leptin receptor deficiency (MIM#614963)
Genomic newborn screening: BabyScreen+ v0.223 LEPR Zornitza Stark Tag clinical trial tag was added to gene: LEPR.
Severe early-onset obesity v1.5 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Tag clinical trial tag was added to gene: LEPR.
Mendeliome v1.343 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Tag clinical trial tag was added to gene: LEPR.
Differences of Sex Development v0.267 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Tag clinical trial tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.223 LEPR Zornitza Stark Publications for gene: LEPR were set to
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.

Further clinical trial pending.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.

Further clinical trial due to recruit.
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.

Further clinical trial pending.
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 33137293; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.222 LDLR Zornitza Stark changed review comment from: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.; to: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark changed review comment from: For review. Treatment is supportive.; to: For review. Variable severity. Treatment is supportive.
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome to Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Perrault syndrome 4, MIM# 615300
Genomic newborn screening: BabyScreen+ v0.221 LARS2 Zornitza Stark Classified gene: LARS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.221 LARS2 Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.220 LARS2 Zornitza Stark reviewed gene: LARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.220 LDLR Zornitza Stark Marked gene: LDLR as ready
Genomic newborn screening: BabyScreen+ v0.220 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.220 LDLR Zornitza Stark Phenotypes for gene: LDLR were changed from Hypercholesterolemia to Hypercholesterolemia, familial, 1, MIM# 143890
Genomic newborn screening: BabyScreen+ v0.219 LDLR Zornitza Stark Mode of inheritance for gene: LDLR 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
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark edited their review of gene: LDLR: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark Tag for review tag was added to gene: LDLR.
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 1, MIM# 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.218 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Genomic newborn screening: BabyScreen+ v0.218 LARGE1 Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.218 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840
Genomic newborn screening: BabyScreen+ v0.217 LARGE1 Zornitza Stark Classified gene: LARGE1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.217 LARGE1 Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.216 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.216 LAMTOR2 Zornitza Stark Marked gene: LAMTOR2 as ready
Genomic newborn screening: BabyScreen+ v0.216 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.216 LAMTOR2 Zornitza Stark Publications for gene: LAMTOR2 were set to
Genomic newborn screening: BabyScreen+ v0.215 LAMTOR2 Zornitza Stark Classified gene: LAMTOR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.215 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.214 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Genomic newborn screening: BabyScreen+ v0.214 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.214 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from Danon disease to Danon disease, MIM# 300257
Genomic newborn screening: BabyScreen+ v0.213 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.212 LAMP2 Zornitza Stark Classified gene: LAMP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.212 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark Tag for review tag was added to gene: LAMP2.
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark edited their review of gene: LAMP2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.211 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Genomic newborn screening: BabyScreen+ v0.211 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.211 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 3B, severe, MIM# 619786
Genomic newborn screening: BabyScreen+ v0.210 LAMC2 Zornitza Stark Classified gene: LAMC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.210 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.209 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 3B, severe, MIM# 619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.209 LAMB3 Zornitza Stark reviewed gene: LAMB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.209 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Genomic newborn screening: BabyScreen+ v0.209 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.209 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from Pierson syndrome to Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Pierson syndrome, MIM# 609049
Genomic newborn screening: BabyScreen+ v0.208 LAMB2 Zornitza Stark Classified gene: LAMB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.208 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.207 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199, Pierson syndrome, MIM# 609049; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.207 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Genomic newborn screening: BabyScreen+ v0.207 LAMA3 Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.207 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 2B, severe, MIM# 619784
Genomic newborn screening: BabyScreen+ v0.206 LAMA3 Zornitza Stark Classified gene: LAMA3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.206 LAMA3 Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.205 LAMA3 Zornitza Stark reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 2B, severe, MIM# 619784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LAMA2 Zornitza Stark Tag for review tag was added to gene: LAMA2.
Genomic newborn screening: BabyScreen+ v0.205 LAMA2 Zornitza Stark reviewed gene: LAMA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 L1CAM Zornitza Stark Tag for review tag was added to gene: L1CAM.
Genomic newborn screening: BabyScreen+ v0.205 L1CAM Zornitza Stark reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.205 ATP7B John Christodoulou reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LYST David Amor reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 ASL John Christodoulou reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LTBP4 David Amor reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LTBP4-related cutis laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 ARSB John Christodoulou reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LRTOMT David Amor reviewed gene: LRTOMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.205 LRSAM1 David Amor reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT2G, CMT2P; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 ARG1 John Christodoulou reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LRRC6 David Amor reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 AHCY John Christodoulou reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LRPPRC David Amor reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Hyperammonaemia v0.6 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.205 AGL John Christodoulou reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Liver Failure_Paediatric v1.19 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Cardiomyopathy_Paediatric v0.134 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Rhabdomyolysis and Metabolic Myopathy v0.90 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Mitochondrial disease v0.836 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.205 LRP5 David Amor edited their review of gene: LRP5: Changed phenotypes: osteoporosis-pseudoglioma syndrome, cause exudative vireoretinopathy, osteopetrosis
Mendeliome v1.343 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Fatty Acid Oxidation Defects v1.8 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.205 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Genomic newborn screening: BabyScreen+ v0.205 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.205 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from Carnitine palmitoyltransferase 2 deficiency to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Genomic newborn screening: BabyScreen+ v0.204 CPT2 Zornitza Stark Publications for gene: CPT2 were set to
Genomic newborn screening: BabyScreen+ v0.203 LRP5 David Amor reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.203 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.203 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Mitochondrial disease v0.836 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.203 ACAD9 John Christodoulou reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.203 LRP4 David Amor reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital myaesthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.343 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Fatty Acid Oxidation Defects v1.8 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.203 CPT1A Zornitza Stark Marked gene: CPT1A as ready
Genomic newborn screening: BabyScreen+ v0.203 CPT1A Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.203 CPT1A Zornitza Stark Publications for gene: CPT1A were set to
Genomic newborn screening: BabyScreen+ v0.202 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.202 CPT1A Zornitza Stark reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.202 LRP2 David Amor reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Hyperammonaemia v0.6 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Episodic Ataxia v0.23 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Hereditary Neuropathy - complex v0.135 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Intellectual disability syndromic and non-syndromic v0.4951 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.202 LOXHD1 David Amor reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: non-syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.505 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genetic Epilepsy v0.1672 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Mendeliome v1.343 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.202 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Genomic newborn screening: BabyScreen+ v0.202 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.202 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease to Maple syrup urine disease, type Ib, MIM# 248600
Genomic newborn screening: BabyScreen+ v0.201 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.201 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Hyperammonaemia v0.6 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Intellectual disability syndromic and non-syndromic v0.4951 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Regression v0.505 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Genetic Epilepsy v0.1672 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Mendeliome v1.343 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Genomic newborn screening: BabyScreen+ v0.201 LMX1B David Amor reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.201 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Genomic newborn screening: BabyScreen+ v0.201 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.201 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease to Maple syrup urine disease, type Ia, MIM# 248600
Genomic newborn screening: BabyScreen+ v0.200 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Genomic newborn screening: BabyScreen+ v0.200 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4951 DBT Zornitza Stark Marked gene: DBT as ready
Intellectual disability syndromic and non-syndromic v0.4951 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Aminoacidopathy v1.0 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Hyperammonaemia v0.6 DBT Zornitza Stark Marked gene: DBT as ready
Hyperammonaemia v0.6 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Hyperammonaemia v0.6 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Regression v0.505 DBT Zornitza Stark Marked gene: DBT as ready
Regression v0.505 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Regression v0.505 DBT Zornitza Stark Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600)
Intellectual disability syndromic and non-syndromic v0.4951 DBT Zornitza Stark Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600)
Genomic newborn screening: BabyScreen+ v0.200 LMOD3 David Amor edited their review of gene: LMOD3: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.4950 DBT Zornitza Stark Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 LMOD3 David Amor reviewed gene: LMOD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4949 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Intellectual disability syndromic and non-syndromic v0.4949 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 DBT Zornitza Stark Marked gene: DBT as ready
Genetic Epilepsy v0.1672 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Regression v0.504 DBT Zornitza Stark Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 DBT Zornitza Stark Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.503 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Regression v0.503 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1671 DBT Zornitza Stark Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600)
Genetic Epilepsy v0.1670 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Marked gene: DBT as ready
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Mendeliome v1.343 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.200 LMBRD1 David Amor reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined methylmalonic acidemia and homocystinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 LITAF David Amor reviewed gene: LITAF: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: CMT1C; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aminoacidopathy v1.0 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Hyperammonaemia v0.6 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Leukodystrophy - paediatric v0.278 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Intellectual disability syndromic and non-syndromic v0.4949 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Mitochondrial disease v0.836 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Genetic Epilepsy v0.1670 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Mendeliome v1.343 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Fatty Acid Oxidation Defects v1.8 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Genomic newborn screening: BabyScreen+ v0.200 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Aminoacidopathy v1.0 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Mitochondrial disease v0.836 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Mendeliome v1.343 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Fatty Acid Oxidation Defects v1.8 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Miscellaneous Metabolic Disorders v1.23 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Stroke v1.7 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Intellectual disability syndromic and non-syndromic v0.4949 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Hyperammonaemia v0.6 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Hand and foot malformations v0.63 GDF5 Sue White Classified gene: GDF5 as Red List (low evidence)
Hand and foot malformations v0.63 GDF5 Sue White Gene: gdf5 has been classified as Red List (Low Evidence).
Mendeliome v1.343 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Genomic newborn screening: BabyScreen+ v0.200 LIPA David Amor reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolman disease, cholesterol ester storage disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.62 HOXD13 Sue White gene: HOXD13 was added
gene: HOXD13 was added to Hand and foot malformations. Sources: Literature
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD13 were set to 12649808; 17236141
Phenotypes for gene: HOXD13 were set to brachydactyly
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia, MIM#215700 to Citrullinaemia, MIM#215700
Genomic newborn screening: BabyScreen+ v0.199 ASS1 Zornitza Stark reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinaemia MIM#215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750, Beta-ketothiolase deficiency MONDO:0008760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.61 GDF5 Sue White Classified gene: GDF5 as Green List (high evidence)
Hand and foot malformations v0.61 GDF5 Sue White Gene: gdf5 has been classified as Green List (High Evidence).
Hand and foot malformations v0.60 GDF5 Sue White gene: GDF5 was added
gene: GDF5 was added to Hand and foot malformations. Sources: Literature
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF5 were set to 9288091; 16127465; 12567410
Phenotypes for gene: GDF5 were set to brachydactyly
Penetrance for gene: GDF5 were set to unknown
Genomic newborn screening: BabyScreen+ v0.199 LIG4 David Amor reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, immunodeficiency, developmental delay, growth delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Genomic newborn screening: BabyScreen+ v0.199 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.199 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LIFR David Amor reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LHX4 David Amor reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: combined pituitary hormone deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.236 LSR Elena Savva reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32303357, 30250217, 15265030; Phenotypes: transient neonatal cholestasis, intellectual disability, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LHX3 David Amor reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.199 LHFPL5 David Amor reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LEPR David Amor reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: severe early onset obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LDLR David Amor reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: familial hypercholesterolemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LARS2 David Amor reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, sensorineural hearing loss, ovarian dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LARGE1 David Amor reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wlaker-Warburg syndrome, muscular dystrophy-dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMTOR2 David Amor reviewed gene: LAMTOR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17195838; Phenotypes: Immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMP2 David Amor reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease - cardiomyopathy, retinal disease, cognitive dysfunction; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.199 LAMC2 David Amor reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMB3 David Amor reviewed gene: LAMB3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMB2 David Amor reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome - congenital nephrotic syndrome and eye abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMA3 David Amor reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMA2 David Amor reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LAMA2 muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 L1CAM David Amor reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosum agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.199 L1CAM David Amor Deleted their review
Genomic newborn screening: BabyScreen+ v0.199 L1CAM David Amor reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosu agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.199 SMN1 John Christodoulou reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACADVL John Christodoulou reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GALE John Christodoulou reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GALK1 John Christodoulou reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GALT John Christodoulou commented on gene: GALT: part of newborn screening programs nationally (but not in Victoria)
Genomic newborn screening: BabyScreen+ v0.199 GALT John Christodoulou reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 TAT John Christodoulou reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PCCB John Christodoulou reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PCCA John Christodoulou reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PCBD1 John Christodoulou reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 QDPR John Christodoulou reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PTS John Christodoulou reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PAH John Christodoulou reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ETFB John Christodoulou reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ETFA John Christodoulou reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ETFDH John Christodoulou reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HADHB John Christodoulou reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HADHA John Christodoulou reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMAB John Christodoulou reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMAA John Christodoulou reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MUT John Christodoulou reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACADM John Christodoulou reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 IVD John Christodoulou reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 BTD John Christodoulou reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HLCS John Christodoulou reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GCDH John Christodoulou reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CBS John Christodoulou reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CFTR John Christodoulou reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CYP21A2 John Christodoulou reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LMBRD1 John Christodoulou reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMADHC John Christodoulou reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMACHC John Christodoulou reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 SLC25A20 John Christodoulou reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 SLC22A5 John Christodoulou reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CPT2 John Christodoulou reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CPT1A John Christodoulou reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 BCKDHB John Christodoulou reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 BCKDHA John Christodoulou reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 DBT John Christodoulou reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ASS1 John Christodoulou reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 John Christodoulou reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HMGCL John Christodoulou reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Marked gene: BRAF as ready
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Classified gene: BRAF as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.197 BRAF Zornitza Stark reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.119 BLNK Zornitza Stark Tag treatable tag was added to gene: BLNK.
Mendeliome v1.343 BLNK Zornitza Stark Tag treatable tag was added to gene: BLNK.
Genomic newborn screening: BabyScreen+ v0.197 BLNK Zornitza Stark Tag treatable tag was added to gene: BLNK.
Genomic newborn screening: BabyScreen+ v0.197 BLNK Zornitza Stark reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 10583958, 32194234, 25893637; Phenotypes: Agammaglobulinaemia 4, MIM# 613502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.197 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Genomic newborn screening: BabyScreen+ v0.197 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.197 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive to Centronuclear myopathy 2, MIM# 255200
Genomic newborn screening: BabyScreen+ v0.196 BIN1 Zornitza Stark Classified gene: BIN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.196 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.195 BIN1 Zornitza Stark reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.195 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Genomic newborn screening: BabyScreen+ v0.195 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.195 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from Congenital spinal muscular atrophy to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Neurodevelopmental disorder (MONDO#0700092), BICD2-related
Genomic newborn screening: BabyScreen+ v0.194 BICD2 Zornitza Stark Publications for gene: BICD2 were set to
Genomic newborn screening: BabyScreen+ v0.193 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.192 BICD2 Zornitza Stark Classified gene: BICD2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.192 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.191 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393, 35896821; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291, Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.191 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Genomic newborn screening: BabyScreen+ v0.191 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.191 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from Renal tubular acidosis & hearing loss, MIM#267300 to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Genomic newborn screening: BabyScreen+ v0.190 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Genomic newborn screening: BabyScreen+ v0.190 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.190 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300
Genomic newborn screening: BabyScreen+ v0.189 ATP8B1 Zornitza Stark Classified gene: ATP8B1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.189 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.188 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.21 TYMS Zornitza Stark Tag digenic tag was added to gene: TYMS.
Mendeliome v1.343 TYMS Zornitza Stark Tag digenic tag was added to gene: TYMS.
Mendeliome v1.343 TYMS Zornitza Stark Phenotypes for gene: TYMS were changed from Dyskeratosis congenita MONDO:0015780 to Dyskeratosis congenita, digenic, MIM#620040
Mendeliome v1.342 TYMS Zornitza Stark edited their review of gene: TYMS: Changed phenotypes: Dyskeratosis congenita, digenic, MIM#620040
Bone Marrow Failure v1.21 TYMS Zornitza Stark Phenotypes for gene: TYMS were changed from Dyskeratosis congenita MONDO:0015780 to Dyskeratosis congenita, digenic, MIM#620040
Bone Marrow Failure v1.20 TYMS Zornitza Stark edited their review of gene: TYMS: Changed phenotypes: Dyskeratosis congenita, digenic, MIM#620040
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.; to: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.

However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed publications: 32894695
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Tag for review tag was added to gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.187 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.187 ATP6V0A4 Zornitza Stark Marked gene: ATP6V0A4 as ready
Genomic newborn screening: BabyScreen+ v0.187 ATP6V0A4 Zornitza Stark Gene: atp6v0a4 has been classified as Green List (High Evidence).
Fetal anomalies v1.70 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Hand and foot malformations v0.59 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Hand and foot malformations v0.59 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.59 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Hand and foot malformations v0.58 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Skeletal dysplasia v0.210 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Skeletal dysplasia v0.210 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.210 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Skeletal dysplasia v0.209 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Skeletal dysplasia v0.209 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Clinical trial with palovarotene.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Mendeliome v1.342 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Mendeliome v1.342 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Clinical trial with palovarotene

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Genomic newborn screening: BabyScreen+ v0.187 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Genomic newborn screening: BabyScreen+ v0.187 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.187 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva to Fibrodysplasia ossificans progressiva, MIM# 135100
Genomic newborn screening: BabyScreen+ v0.186 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Genomic newborn screening: BabyScreen+ v0.185 ACVR1 Zornitza Stark Classified gene: ACVR1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.185 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.184 ACVR1 Zornitza Stark Tag for review tag was added to gene: ACVR1.
Tag clinical trial tag was added to gene: ACVR1.
Genomic newborn screening: BabyScreen+ v0.184 ACVR1 Zornitza Stark reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: None; Publications: 16642017, 29089047, 35384641; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.184 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Genomic newborn screening: BabyScreen+ v0.184 ACOX1 Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.184 ACOX1 Zornitza Stark Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960
Genomic newborn screening: BabyScreen+ v0.183 ACOX1 Zornitza Stark Publications for gene: ACOX1 were set to
Genomic newborn screening: BabyScreen+ v0.182 ACOX1 Zornitza Stark Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.181 ACOX1 Zornitza Stark Classified gene: ACOX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.181 ACOX1 Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.180 ACOX1 Zornitza Stark reviewed gene: ACOX1: Rating: RED; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cholestasis v0.236 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Cholestasis v0.236 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Cholestasis v0.236 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, MIM# 229600
Cholestasis v0.235 ALDOB Zornitza Stark Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.234 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.234 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Liver Failure_Paediatric v1.19 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Mendeliome v1.342 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Mendeliome v1.342 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.180 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Genomic newborn screening: BabyScreen+ v0.180 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.180 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from Fructose intolerance, MIM#229600 to Fructose intolerance, hereditary, MIM# 229600
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark edited their review of gene: ALDOB: Changed phenotypes: Fructose intolerance, hereditary, MIM# 229600
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.179 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Genomic newborn screening: BabyScreen+ v0.179 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.179 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Deafness, childhood onset to Deafness, autosomal dominant 82, MIM# 619804
Genomic newborn screening: BabyScreen+ v0.178 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.178 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.177 ATP2B2 Zornitza Stark Tag for review tag was added to gene: ATP2B2.
Genomic newborn screening: BabyScreen+ v0.177 ATP2B2 Zornitza Stark reviewed gene: ATP2B2: Rating: RED; Mode of pathogenicity: None; Publications: 30535804; Phenotypes: Deafness, autosomal dominant 82, MIM# 619804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.177 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Genomic newborn screening: BabyScreen+ v0.177 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.177 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Hemiplegic migraine to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605
Genomic newborn screening: BabyScreen+ v0.176 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Genomic newborn screening: BabyScreen+ v0.175 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.174 ATP1A2 Zornitza Stark Classified gene: ATP1A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.174 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.173 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 31608932, 33880529
Genomic newborn screening: BabyScreen+ v0.173 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v1.9 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Congenital Myasthenia v1.8 ALG14 Zornitza Stark Publications for gene: ALG14 were set to 23404334; 28733338
Congenital Myasthenia v1.7 ALG14 Zornitza Stark Classified gene: ALG14 as Amber List (moderate evidence)
Congenital Myasthenia v1.7 ALG14 Zornitza Stark Gene: alg14 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.6 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334, 28733338; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.172 ALG9 Zornitza Stark Classified gene: ALG9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.172 ALG9 Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.171 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: RED; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210, Polycystic kidney disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.171 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Genomic newborn screening: BabyScreen+ v0.171 ALG8 Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.171 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih to Congenital disorder of glycosylation, type Ih, MIM# 608104
Genomic newborn screening: BabyScreen+ v0.170 ALG8 Zornitza Stark Classified gene: ALG8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.170 ALG8 Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.169 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.169 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Genomic newborn screening: BabyScreen+ v0.169 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.169 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic to Congenital disorder of glycosylation, type Ic (MIM#603147)
Genomic newborn screening: BabyScreen+ v0.168 ALG6 Zornitza Stark Classified gene: ALG6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.168 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.167 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.167 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Genomic newborn screening: BabyScreen+ v0.167 ALG3 Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.167 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from Congenital disorder of glycosylation, type Id to Congenital disorder of glycosylation, type Id, MIM# 601110
Genomic newborn screening: BabyScreen+ v0.166 ALG3 Zornitza Stark Classified gene: ALG3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.166 ALG3 Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.165 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Id 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.165 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Genomic newborn screening: BabyScreen+ v0.165 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.165 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from Congenital disorder of glycosylation, type Ig to Congenital disorder of glycosylation, type Ig, MIM# 607143
Genomic newborn screening: BabyScreen+ v0.164 ALG12 Zornitza Stark Classified gene: ALG12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.164 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.163 ALG12 Zornitza Stark reviewed gene: ALG12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.163 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Genomic newborn screening: BabyScreen+ v0.163 ALG1 Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.163 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from Congenital disorder of glycosylation, type Ik to Congenital disorder of glycosylation, type Ik 608540
Genomic newborn screening: BabyScreen+ v0.162 ALG1 Zornitza Stark Classified gene: ALG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.162 ALG1 Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.161 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.70 ATP7A Zornitza Stark changed review comment from: Well established gene-disease association, IUGR is a feature.; to: Well established gene-disease association, IUGR is a feature.

Treatment: subcutaneous injections of copper histidine or copper chloride

ClinGen has assessed as moderate evidence for actionability.

Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.
Fetal anomalies v1.70 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Hair disorders v0.62 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Hair disorders v0.62 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Hair disorders v0.62 ATP7A Zornitza Stark Publications for gene: ATP7A were set to 31332722
Hair disorders v0.61 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Leukodystrophy - paediatric v0.278 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Intellectual disability syndromic and non-syndromic v0.4949 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Intellectual disability syndromic and non-syndromic v0.4949 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4949 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Menkes disease MIM#309400
Intellectual disability syndromic and non-syndromic v0.4948 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4947 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Intellectual disability syndromic and non-syndromic v0.4947 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.503 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Regression v0.503 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Regression v0.503 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Menkes disease MIM#309400
Regression v0.502 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.501 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Regression v0.501 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1670 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Genetic Epilepsy v0.1670 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1670 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Menkes disease MIM#309400
Genetic Epilepsy v0.1669 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1668 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1668 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Macrocephaly_Megalencephaly v0.121 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Macrocephaly_Megalencephaly v0.121 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.121 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Menkes disease MIM#309400
Macrocephaly_Megalencephaly v0.120 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Macrocephaly_Megalencephaly v0.119 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Macrocephaly_Megalencephaly v0.119 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Aortopathy_Connective Tissue Disorders v1.72 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Aortopathy_Connective Tissue Disorders v1.72 ATP7A Zornitza Stark changed review comment from: Connective tissue laxity is a prominent part of the phenotype.
Sources: Expert list; to: Connective tissue laxity is a prominent part of the phenotype.

Treatment: subcutaneous injections of copper histidine or copper chloride

ClinGen has assessed as moderate evidence for actionability.

Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.
Sources: Expert list
Mendeliome v1.342 ATP7A Zornitza Stark changed review comment from: ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.; to: ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.

Treatment for Menkes disease: subcutaneous injections of copper histidine or copper chloride

ClinGen has assessed as moderate evidence for actionability.

Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.
Mendeliome v1.342 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark changed review comment from: Well established gene-disease association.

ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.

Menkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months.

Females are typically asymptomatic.

In Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect

Treatment: subcutaneous injections of copper histidine or copper chloride

ClinGen has assessed as moderate evidence for actionability.

Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.; to: Well established gene-disease association.

ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.

Menkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months.

Females are typically asymptomatic.

In Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect.

Non-genetic confirmatory testing: serum ceruloplasmin and copper, plasma catechols

Treatment: subcutaneous injections of copper histidine or copper chloride

ClinGen has assessed as moderate evidence for actionability.

Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark Tag for review tag was added to gene: ATP7A.
Tag treatable tag was added to gene: ATP7A.
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.161 ATP7A Zornitza Stark Publications for gene: ATP7A were set to
Genomic newborn screening: BabyScreen+ v0.160 ATP7A Zornitza Stark edited their review of gene: ATP7A: Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.160 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: ; Mode of pathogenicity: None; Publications: 30594472; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.160 ATRX Zornitza Stark Marked gene: ATRX as ready
Genomic newborn screening: BabyScreen+ v0.160 ATRX Zornitza Stark Gene: atrx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.160 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580
Genomic newborn screening: BabyScreen+ v0.159 ATRX Zornitza Stark Classified gene: ATRX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.159 ATRX Zornitza Stark Gene: atrx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.158 ATRX Zornitza Stark reviewed gene: ATRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.342 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580
Cholestasis v0.234 BAAT Zornitza Stark Marked gene: BAAT as ready
Cholestasis v0.234 BAAT Zornitza Stark Gene: baat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.158 BAAT Zornitza Stark Marked gene: BAAT as ready
Genomic newborn screening: BabyScreen+ v0.158 BAAT Zornitza Stark Gene: baat has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.158 BAAT Zornitza Stark Phenotypes for gene: BAAT were changed from Bile acid amidation defect to Bile acid conjugation defect 1, MIM# 619232
Genomic newborn screening: BabyScreen+ v0.157 BAAT Zornitza Stark Classified gene: BAAT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.157 BAAT Zornitza Stark Gene: baat has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.156 BAAT Zornitza Stark reviewed gene: BAAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.156 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Genomic newborn screening: BabyScreen+ v0.156 B3GLCT Zornitza Stark Gene: b3glct has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.156 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from Peters-Plus syndrome to Peters-plus syndrome, MIM#261540
Genomic newborn screening: BabyScreen+ v0.155 B3GLCT Zornitza Stark Classified gene: B3GLCT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.155 B3GLCT Zornitza Stark Gene: b3glct has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.154 B3GLCT Zornitza Stark reviewed gene: B3GLCT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peters-plus syndrome, MIM#261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.154 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Genomic newborn screening: BabyScreen+ v0.154 BBS9 Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.154 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 9, MIM#615986
Genomic newborn screening: BabyScreen+ v0.153 BBS9 Zornitza Stark Classified gene: BBS9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.153 BBS9 Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.152 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.152 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Genomic newborn screening: BabyScreen+ v0.152 BBS7 Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.152 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 7, MIM# 615984
Genomic newborn screening: BabyScreen+ v0.151 BBS7 Zornitza Stark Classified gene: BBS7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.151 BBS7 Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.150 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.150 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Genomic newborn screening: BabyScreen+ v0.150 BBS5 Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.150 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 5, MIM#615983
Genomic newborn screening: BabyScreen+ v0.149 BBS5 Zornitza Stark Classified gene: BBS5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.149 BBS5 Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.148 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.148 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Genomic newborn screening: BabyScreen+ v0.148 BBS4 Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.148 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 4, MIM#615982
Genomic newborn screening: BabyScreen+ v0.147 BBS4 Zornitza Stark Classified gene: BBS4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.147 BBS4 Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.146 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.146 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Genomic newborn screening: BabyScreen+ v0.146 BBS2 Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.146 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 2, MIM# 615981
Genomic newborn screening: BabyScreen+ v0.145 BBS2 Zornitza Stark Classified gene: BBS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.145 BBS2 Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.144 BBS2 Zornitza Stark reviewed gene: BBS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 2, MIM# 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.144 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Genomic newborn screening: BabyScreen+ v0.144 BBS12 Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.144 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 12, MIM# 615989
Genomic newborn screening: BabyScreen+ v0.143 BBS12 Zornitza Stark Classified gene: BBS12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.143 BBS12 Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.142 BBS12 Zornitza Stark reviewed gene: BBS12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.70 PDCD6IP Zornitza Stark Phenotypes for gene: PDCD6IP were changed from Primary microcephaly to Microcephaly 29, primary, autosomal recessive, MIM# 620047
Fetal anomalies v1.69 PDCD6IP Zornitza Stark reviewed gene: PDCD6IP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 29, primary, autosomal recessive, MIM# 620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4947 PDCD6IP Zornitza Stark Phenotypes for gene: PDCD6IP were changed from Primary microcephaly to Microcephaly 29, primary, autosomal recessive, MIM# 620047
Intellectual disability syndromic and non-syndromic v0.4946 PDCD6IP Zornitza Stark reviewed gene: PDCD6IP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 29, primary, autosomal recessive, MIM# 620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.153 PDCD6IP Zornitza Stark Phenotypes for gene: PDCD6IP were changed from Primary microcephaly to Microcephaly 29, primary, autosomal recessive, MIM# 620047
Microcephaly v1.152 PDCD6IP Zornitza Stark edited their review of gene: PDCD6IP: Changed rating: AMBER; Changed phenotypes: Microcephaly 29, primary, autosomal recessive, MIM# 620047; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.341 PDCD6IP Zornitza Stark Phenotypes for gene: PDCD6IP were changed from Neurodevelopmental disorder MONDO:0700092; Microcephaly; intellectual disability to Microcephaly 29, primary, autosomal recessive, MIM# 620047; Microcephaly; intellectual disability
Mendeliome v1.340 PDCD6IP Zornitza Stark edited their review of gene: PDCD6IP: Changed phenotypes: Microcephaly 29, primary, autosomal recessive, MIM# 620047, Microcephaly, intellectual disability
Mendeliome v1.340 PDCD6IP Zornitza Stark edited their review of gene: PDCD6IP: Changed phenotypes: Microcephaly 29, primary, autosomal recessive , MIM# 620047, Microcephaly, intellectual disability
Genomic newborn screening: BabyScreen+ v0.142 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Genomic newborn screening: BabyScreen+ v0.142 BBS10 Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.142 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 10, MIM# 615987
Genomic newborn screening: BabyScreen+ v0.141 BBS10 Zornitza Stark Classified gene: BBS10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.141 BBS10 Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.140 BBS10 Zornitza Stark reviewed gene: BBS10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 10, MIM# 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.340 DPP9 Zornitza Stark Marked gene: DPP9 as ready
Mendeliome v1.340 DPP9 Zornitza Stark Gene: dpp9 has been classified as Green List (High Evidence).
Mendeliome v1.340 DPP9 Zornitza Stark Classified gene: DPP9 as Green List (high evidence)
Mendeliome v1.340 DPP9 Zornitza Stark Gene: dpp9 has been classified as Green List (High Evidence).
Mendeliome v1.339 DPP9 Zornitza Stark gene: DPP9 was added
gene: DPP9 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPP9 were set to 36112693
Phenotypes for gene: DPP9 were set to Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias
Review for gene: DPP9 was set to GREEN
Added comment: Three unrelated families with Hatipoğlu syndrome with biochemical and cellular assays, mouse and zebrafish models. Immunological features of recurrent fevers, repeated infections, herpes susceptibility, cytopenias.
Sources: Expert Review
Autoinflammatory Disorders v0.166 DPP9 Zornitza Stark Marked gene: DPP9 as ready
Autoinflammatory Disorders v0.166 DPP9 Zornitza Stark Gene: dpp9 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.166 DPP9 Zornitza Stark Phenotypes for gene: DPP9 were changed from recurrent fevers; repeated infections; herpes susceptibility; cytopaenias to Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopaenias
Autoinflammatory Disorders v0.165 DPP9 Zornitza Stark Classified gene: DPP9 as Green List (high evidence)
Autoinflammatory Disorders v0.165 DPP9 Zornitza Stark Gene: dpp9 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.105 C1R Zornitza Stark Marked gene: C1R as ready
Leukodystrophy - adult onset v0.105 C1R Zornitza Stark Gene: c1r has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.105 C1R Zornitza Stark Classified gene: C1R as Amber List (moderate evidence)
Leukodystrophy - adult onset v0.105 C1R Zornitza Stark Gene: c1r has been classified as Amber List (Moderate Evidence).
Dystonia - complex v0.217 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to 22964162; 16541453; 32219868
Dystonia - complex v0.216 AFG3L2 Zornitza Stark Classified gene: AFG3L2 as Amber List (moderate evidence)
Dystonia - complex v0.216 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.236 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spinocerebellar ataxia 28, MIM# 610246; optic atrophy; spastic ataxia; L-dopa-responsive parkinsonism
Early-onset Parkinson disease v0.236 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Early-onset Parkinson disease v0.235 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.234 AFG3L2 Zornitza Stark Classified gene: AFG3L2 as Amber List (moderate evidence)
Early-onset Parkinson disease v0.234 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.233 AFG3L2 Zornitza Stark Classified gene: AFG3L2 as Amber List (moderate evidence)
Early-onset Parkinson disease v0.233 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.232 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 28, MIM# 610246; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.140 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Genomic newborn screening: BabyScreen+ v0.140 BBS1 Zornitza Stark Gene: bbs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.140 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 1, MIM# 209900
Genomic newborn screening: BabyScreen+ v0.139 BBS1 Zornitza Stark Classified gene: BBS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.139 BBS1 Zornitza Stark Gene: bbs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.138 BBS1 Zornitza Stark reviewed gene: BBS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.338 ATP6V1B1 Zornitza Stark Tag treatable tag was added to gene: ATP6V1B1.
Genomic newborn screening: BabyScreen+ v0.138 ATP6V1B1 Zornitza Stark Tag for review tag was added to gene: ATP6V1B1.
Tag treatable tag was added to gene: ATP6V1B1.
Genomic newborn screening: BabyScreen+ v0.138 ATP6V1B1 Zornitza Stark reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.338 ATP6V0A4 Zornitza Stark Tag treatable tag was added to gene: ATP6V0A4.
Genomic newborn screening: BabyScreen+ v0.138 ATP6V0A4 Zornitza Stark Tag for review tag was added to gene: ATP6V0A4.
Tag treatable tag was added to gene: ATP6V0A4.
Genomic newborn screening: BabyScreen+ v0.138 ATP6V0A4 Zornitza Stark reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular acidosis, distal, autosomal recessive, MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.138 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Genomic newborn screening: BabyScreen+ v0.138 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.138 ATP6V0A2 Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
Genomic newborn screening: BabyScreen+ v0.137 ATP6V0A2 Zornitza Stark Classified gene: ATP6V0A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.137 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.136 ATP6V0A2 Zornitza Stark reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.136 ATP2A1 Zornitza Stark Marked gene: ATP2A1 as ready
Genomic newborn screening: BabyScreen+ v0.136 ATP2A1 Zornitza Stark Gene: atp2a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.136 ATP2A1 Zornitza Stark Phenotypes for gene: ATP2A1 were changed from Brody myopathy to Brody myopathy, OMIM # 601003
Genomic newborn screening: BabyScreen+ v0.135 ATP2A1 Zornitza Stark Classified gene: ATP2A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.135 ATP2A1 Zornitza Stark Gene: atp2a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.134 ATP2A1 Zornitza Stark reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brody myopathy, OMIM # 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.134 ATM Zornitza Stark Marked gene: ATM as ready
Genomic newborn screening: BabyScreen+ v0.134 ATM Zornitza Stark Gene: atm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.134 ATM Zornitza Stark Phenotypes for gene: ATM were changed from Ataxia-telangiectasia to Ataxia-telangiectasia, MIM# 208900
Genomic newborn screening: BabyScreen+ v0.133 ATM Zornitza Stark Classified gene: ATM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.133 ATM Zornitza Stark Gene: atm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.132 ATM Zornitza Stark reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.132 ASPA Zornitza Stark Marked gene: ASPA as ready
Genomic newborn screening: BabyScreen+ v0.132 ASPA Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.132 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease to Canavan disease MIM#271900
Genomic newborn screening: BabyScreen+ v0.131 ASPA Zornitza Stark Classified gene: ASPA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.131 ASPA Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.130 ASPA Zornitza Stark reviewed gene: ASPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.130 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Genomic newborn screening: BabyScreen+ v0.130 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.130 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Genomic newborn screening: BabyScreen+ v0.130 ALMS1 Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.130 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from Alstrom syndrome to Alstrom syndrome, MIM# 203800
Genomic newborn screening: BabyScreen+ v0.129 ALMS1 Zornitza Stark Classified gene: ALMS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.129 ALMS1 Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.128 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Maturity-onset Diabetes of the Young v1.0 Bryony Thompson promoted panel to version 1.0
Maturity-onset Diabetes of the Young v0.22 CEL Bryony Thompson Publications for gene: CEL were set to
Maturity-onset Diabetes of the Young v0.21 PDX1 Bryony Thompson Marked gene: PDX1 as ready
Maturity-onset Diabetes of the Young v0.21 PDX1 Bryony Thompson Gene: pdx1 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.21 PDX1 Bryony Thompson Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1 to Pancreatic agenesis 1 - MIM#260370 (AR); MODY, type IV - MIM#606392(AD)
Maturity-onset Diabetes of the Young v0.20 PDX1 Bryony Thompson Publications for gene: PDX1 were set to
Maturity-onset Diabetes of the Young v0.19 PCBD1 Bryony Thompson Marked gene: PCBD1 as ready
Maturity-onset Diabetes of the Young v0.19 PCBD1 Bryony Thompson Gene: pcbd1 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.19 PAX4 Bryony Thompson Marked gene: PAX4 as ready
Maturity-onset Diabetes of the Young v0.19 PAX4 Bryony Thompson Gene: pax4 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.19 PAX4 Bryony Thompson Publications for gene: PAX4 were set to
Maturity-onset Diabetes of the Young v0.18 NEUROD1 Bryony Thompson Marked gene: NEUROD1 as ready
Maturity-onset Diabetes of the Young v0.18 NEUROD1 Bryony Thompson Gene: neurod1 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.18 NEUROD1 Bryony Thompson Publications for gene: NEUROD1 were set to
Maturity-onset Diabetes of the Young v0.17 INS Bryony Thompson Marked gene: INS as ready
Maturity-onset Diabetes of the Young v0.17 INS Bryony Thompson Gene: ins has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.17 INS Bryony Thompson Publications for gene: INS were set to
Maturity-onset Diabetes of the Young v0.16 HNF4A Bryony Thompson Marked gene: HNF4A as ready
Maturity-onset Diabetes of the Young v0.16 HNF4A Bryony Thompson Gene: hnf4a has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.16 HNF4A Bryony Thompson Publications for gene: HNF4A were set to
Maturity-onset Diabetes of the Young v0.15 HNF1B Bryony Thompson Marked gene: HNF1B as ready
Maturity-onset Diabetes of the Young v0.15 HNF1B Bryony Thompson Gene: hnf1b has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.15 HNF1B Bryony Thompson Tag cnv tag was added to gene: HNF1B.
Maturity-onset Diabetes of the Young v0.15 HNF1A Bryony Thompson Marked gene: HNF1A as ready
Maturity-onset Diabetes of the Young v0.15 HNF1A Bryony Thompson Gene: hnf1a has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.15 HNF1A Bryony Thompson Publications for gene: HNF1A were set to
Maturity-onset Diabetes of the Young v0.14 ABCC8 Bryony Thompson Marked gene: ABCC8 as ready
Maturity-onset Diabetes of the Young v0.14 ABCC8 Bryony Thompson Gene: abcc8 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.14 ABCC8 Bryony Thompson Publications for gene: ABCC8 were set to
Genomic newborn screening: BabyScreen+ v0.128 ARX Zornitza Stark Marked gene: ARX as ready
Genomic newborn screening: BabyScreen+ v0.128 ARX Zornitza Stark Gene: arx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.128 ARX Zornitza Stark Phenotypes for gene: ARX were changed from Lissencephaly, X-linked 2 to Lissencephaly, X-linked 2, MIM# 300215
Genomic newborn screening: BabyScreen+ v0.127 ARX Zornitza Stark Classified gene: ARX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.127 ARX Zornitza Stark Gene: arx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.126 ARX Zornitza Stark reviewed gene: ARX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked 2, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy - complex v0.135 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy to Metachromatic leukodystrophy, MIM# 250100; Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
Hereditary Neuropathy - complex v0.134 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.134 ARSA Zornitza Stark Marked gene: ARSA as ready
Hereditary Neuropathy - complex v0.134 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.104 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Leukodystrophy - paediatric v0.278 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Dystonia - complex v0.215 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Ataxia - paediatric v0.344 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Intellectual disability syndromic and non-syndromic v0.4946 ARSA Zornitza Stark Marked gene: ARSA as ready
Intellectual disability syndromic and non-syndromic v0.4946 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4946 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100
Intellectual disability syndromic and non-syndromic v0.4945 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4944 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Intellectual disability syndromic and non-syndromic v0.4944 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.501 ARSA Zornitza Stark Marked gene: ARSA as ready
Regression v0.501 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Regression v0.501 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100
Regression v0.500 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.499 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.499 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Lysosomal Storage Disorder v1.6 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Mendeliome v1.338 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Genomic newborn screening: BabyScreen+ v0.126 ARSA Zornitza Stark Marked gene: ARSA as ready
Genomic newborn screening: BabyScreen+ v0.126 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.126 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy to Metachromatic leukodystrophy, MIM# 250100
Genomic newborn screening: BabyScreen+ v0.125 ARSA Zornitza Stark Tag for review tag was added to gene: ARSA.
Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Genomic newborn screening: BabyScreen+ v0.125 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.26 ARPC1B Zornitza Stark Tag treatable tag was added to gene: ARPC1B.
Bleeding and Platelet Disorders v1.16 ARPC1B Zornitza Stark Tag treatable tag was added to gene: ARPC1B.
Genomic newborn screening: BabyScreen+ v0.125 ARPC1B Zornitza Stark changed review comment from: Established gene-disease association, 3 families and functional data.

Severe disorder with onset in infancy/childhood. Recurrent infections and inflammatory features such as vasculitis and eczema.

Treatable: bone marrow transplant.; to: Established gene-disease association, 9 families and functional data.

Severe disorder with onset in infancy/childhood. Recurrent infections and inflammatory features such as vasculitis and eczema.

Treatable: bone marrow transplant.
Bleeding and Platelet Disorders v1.16 ARPC1B Zornitza Stark changed review comment from: At least 9 unrelated families reported.
Sources: Expert list; to: At least 9 unrelated families reported. Treatable: BMT.
Sources: Expert list
Mendeliome v1.338 ARPC1B Zornitza Stark changed review comment from: Three families with functional data.; to: Three families with functional data.

Treatment: BMT.
Mendeliome v1.338 ARPC1B Zornitza Stark Tag treatable tag was added to gene: ARPC1B.
Genomic newborn screening: BabyScreen+ v0.125 ARPC1B Zornitza Stark Tag treatable tag was added to gene: ARPC1B.
Genomic newborn screening: BabyScreen+ v0.125 ARPC1B Zornitza Stark reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28368018, 33679784; Phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, MIM# 617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.125 ARMC4 Zornitza Stark Marked gene: ARMC4 as ready
Genomic newborn screening: BabyScreen+ v0.125 ARMC4 Zornitza Stark Gene: armc4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.125 ARMC4 Zornitza Stark Phenotypes for gene: ARMC4 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 23, MIM# 615451
Genomic newborn screening: BabyScreen+ v0.124 ARMC4 Zornitza Stark Classified gene: ARMC4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.124 ARMC4 Zornitza Stark Gene: armc4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.123 ARMC4 Zornitza Stark reviewed gene: ARMC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.123 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Genomic newborn screening: BabyScreen+ v0.123 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.123 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from Periventricular heterotopia with microcephaly to Periventricular heterotopia with microcephaly (MIM#608097)
Genomic newborn screening: BabyScreen+ v0.122 ARFGEF2 Zornitza Stark Classified gene: ARFGEF2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.122 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.121 ARFGEF2 Zornitza Stark reviewed gene: ARFGEF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.121 AR Zornitza Stark Marked gene: AR as ready
Genomic newborn screening: BabyScreen+ v0.121 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.121 AR Zornitza Stark Phenotypes for gene: AR were changed from Androgen insensitivity, MIM# 300068 to Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300
Genomic newborn screening: BabyScreen+ v0.120 AR Zornitza Stark Classified gene: AR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.120 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.119 AR Zornitza Stark reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypospadias 1, X-linked MIM#30063, Androgen insensitivity MIM#300068, Androgen insensitivity, partial, with or without breast cancer MIM#312300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diabetes Insipidus v1.1 AVPR2 Zornitza Stark Marked gene: AVPR2 as ready
Diabetes Insipidus v1.1 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence).
Diabetes Insipidus v1.1 AVPR2 Zornitza Stark Tag treatable tag was added to gene: AVPR2.
Tag clinical trial tag was added to gene: AVPR2.
Diabetes Insipidus v1.1 AVPR2 Zornitza Stark reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.119 AVPR2 Zornitza Stark changed review comment from: Well established gene-disease association.

Onset in infancy. Causes severe dehydration, can be life-threatening.

Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.

Clinical trials.; to: Well established gene-disease association.

Onset in infancy. Causes severe dehydration, can be life-threatening.

Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.

Clinical trials.

Around 10% of variants are large deletions.
Genomic newborn screening: BabyScreen+ v0.119 AVPR2 Zornitza Stark Tag SV/CNV tag was added to gene: AVPR2.
Mendeliome v1.338 AVPR2 Zornitza Stark Tag clinical trial tag was added to gene: AVPR2.
Mendeliome v1.338 AVPR2 Zornitza Stark reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic 304800, Nephrogenic syndrome of inappropriate antidiuresis 300539; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.338 AVPR2 Zornitza Stark Tag treatable tag was added to gene: AVPR2.
Mendeliome v1.338 AVP Zornitza Stark reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.338 AVP Zornitza Stark Tag treatable tag was added to gene: AVP.
Tag clinical trial tag was added to gene: AVP.
Diabetes Insipidus v1.1 AVP Zornitza Stark Tag treatable tag was added to gene: AVP.
Tag clinical trial tag was added to gene: AVP.
Diabetes Insipidus v1.1 AVP Zornitza Stark reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.119 AVP Zornitza Stark Marked gene: AVP as ready
Genomic newborn screening: BabyScreen+ v0.119 AVP Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.119 AVP Zornitza Stark Classified gene: AVP as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.119 AVP Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.118 AVP Zornitza Stark gene: AVP was added
gene: AVP was added to gNBS. Sources: Expert Review
treatable, clinical trial tags were added to gene: AVP.
Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AVP were set to 32052034; 31238300
Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700
Review for gene: AVP was set to GREEN
Added comment: Well established gene-disease association.

Onset in childhood with polydipsia and polyuria. Can be life-threatening.

Treatment: DDAVP.
Clinical trials.
Sources: Expert Review
Diabetes Insipidus v1.1 AQP2 Zornitza Stark Tag treatable tag was added to gene: AQP2.
Tag clinical trial tag was added to gene: AQP2.
Diabetes Insipidus v1.1 AQP2 Zornitza Stark reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic MIM#125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.338 AQP2 Zornitza Stark Tag treatable tag was added to gene: AQP2.
Tag clinical trial tag was added to gene: AQP2.
Mendeliome v1.338 AQP2 Zornitza Stark changed review comment from: Dominant disease is caused by variants exerting a dominant negative effect, whereas recessive disease is caused by bi-allelic loss of function variants.; to: Dominant disease is caused by variants exerting a dominant negative effect, whereas recessive disease is caused by bi-allelic loss of function variants.

Onset in infancy. Causes severe dehydration, can be life-threatening.

Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.

Clinical trials.
Genomic newborn screening: BabyScreen+ v0.117 AVPR2 Zornitza Stark Marked gene: AVPR2 as ready
Genomic newborn screening: BabyScreen+ v0.117 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.117 AVPR2 Zornitza Stark Tag treatable tag was added to gene: AVPR2.
Tag clinical trial tag was added to gene: AVPR2.
Genomic newborn screening: BabyScreen+ v0.117 AVPR2 Zornitza Stark reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, 1 304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.117 AQP2 Zornitza Stark Marked gene: AQP2 as ready
Genomic newborn screening: BabyScreen+ v0.117 AQP2 Zornitza Stark Gene: aqp2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.117 AQP2 Zornitza Stark Publications for gene: AQP2 were set to
Genomic newborn screening: BabyScreen+ v0.116 AQP2 Zornitza Stark Tag treatable tag was added to gene: AQP2.
Tag clinical trial tag was added to gene: AQP2.
Genomic newborn screening: BabyScreen+ v0.116 AQP2 Zornitza Stark reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7537761, 11536078; Phenotypes: Diabetes insipidus, nephrogenic, MIM#125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.116 AMN Zornitza Stark Tag treatable tag was added to gene: AMN.
Genomic newborn screening: BabyScreen+ v0.116 APTX Zornitza Stark Marked gene: APTX as ready
Genomic newborn screening: BabyScreen+ v0.116 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.116 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Genomic newborn screening: BabyScreen+ v0.115 APTX Zornitza Stark Publications for gene: APTX were set to
Genomic newborn screening: BabyScreen+ v0.114 APTX Zornitza Stark Classified gene: APTX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.114 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.113 APTX Zornitza Stark reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.338 APRT Zornitza Stark changed review comment from: APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic.; to: APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic.

Treatable: allopurinol or febuxostat, low purine diet.
Genomic newborn screening: BabyScreen+ v0.113 APRT Zornitza Stark Marked gene: APRT as ready
Genomic newborn screening: BabyScreen+ v0.113 APRT Zornitza Stark Gene: aprt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.113 APRT Zornitza Stark Classified gene: APRT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.113 APRT Zornitza Stark Gene: aprt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.112 APRT Zornitza Stark Tag for review tag was added to gene: APRT.
Tag treatable tag was added to gene: APRT.
Genomic newborn screening: BabyScreen+ v0.112 APRT Zornitza Stark reviewed gene: APRT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency MIM#614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.338 APRT Zornitza Stark Tag treatable tag was added to gene: APRT.
Mendeliome v1.338 APRT Zornitza Stark reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency MIM#614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.25 APOB Zornitza Stark Tag treatable tag was added to gene: APOB.
Dyslipidaemia v0.35 APOB Zornitza Stark Tag treatable tag was added to gene: APOB.
Genomic newborn screening: BabyScreen+ v0.112 APOB Zornitza Stark Marked gene: APOB as ready
Genomic newborn screening: BabyScreen+ v0.112 APOB Zornitza Stark Gene: apob has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.112 APOB Zornitza Stark Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2, MIM# 144010 to Hypercholesterolaemia, familial, 2, MIM# 144010
Genomic newborn screening: BabyScreen+ v0.111 APOB Zornitza Stark Phenotypes for gene: APOB were changed from Apolipoprotein B deficiency to Hypercholesterolemia, familial, 2, MIM# 144010
Genomic newborn screening: BabyScreen+ v0.110 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.109 APOB Zornitza Stark Classified gene: APOB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.109 APOB Zornitza Stark Gene: apob has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.108 APOB Zornitza Stark Tag for review tag was added to gene: APOB.
Tag treatable tag was added to gene: APOB.
Genomic newborn screening: BabyScreen+ v0.108 APOB Zornitza Stark reviewed gene: APOB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 2, MIM# 144010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.232 AFG3L2 Shekeeb Mohammad reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36110148; Phenotypes: dystonia, parkinsonism, intellectual disability, optic hypoplasia, cognitive decline, dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dystonia - complex v0.215 AFG3L2 Shekeeb Mohammad reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36110148; Phenotypes: dystonia, parkinsonism, intellectual disability, optic hypoplasia, dementia, cognitive decline; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.107 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Genomic newborn screening: BabyScreen+ v0.107 ARID1B Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.107 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome to Coffin-Siris syndrome 1 MIM#135900
Genomic newborn screening: BabyScreen+ v0.106 ARID1B Zornitza Stark Classified gene: ARID1B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.106 ARID1B Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.105 ARID1B Zornitza Stark reviewed gene: ARID1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1 MIM#135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.217 APC Zornitza Stark Tag treatable tag was added to gene: APC.
Genomic newborn screening: BabyScreen+ v0.105 APC Zornitza Stark Marked gene: APC as ready
Genomic newborn screening: BabyScreen+ v0.105 APC Zornitza Stark Gene: apc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.105 APC Zornitza Stark Phenotypes for gene: APC were changed from Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated to Adenomatous polyposis coli, MIM# 175100
Genomic newborn screening: BabyScreen+ v0.104 APC Zornitza Stark Classified gene: APC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.104 APC Zornitza Stark Gene: apc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.103 APC Zornitza Stark Tag treatable tag was added to gene: APC.
Genomic newborn screening: BabyScreen+ v0.103 APC Zornitza Stark Tag for review tag was added to gene: APC.
Genomic newborn screening: BabyScreen+ v0.103 APC Zornitza Stark reviewed gene: APC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.103 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Genomic newborn screening: BabyScreen+ v0.103 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.103 AP4M1 Zornitza Stark Classified gene: AP4M1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.103 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.102 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.102 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Genomic newborn screening: BabyScreen+ v0.102 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.102 AP4E1 Zornitza Stark Classified gene: AP4E1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.102 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.101 AP4E1 Zornitza Stark reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.101 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Genomic newborn screening: BabyScreen+ v0.101 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.101 AP4B1 Zornitza Stark Classified gene: AP4B1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.101 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.100 AP4B1 Zornitza Stark reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v1.12 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Intellectual disability syndromic and non-syndromic v0.4944 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Disorders of immune dysregulation v0.155 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Pulmonary Fibrosis_Interstitial Lung Disease v0.43 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Mendeliome v1.338 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Interstitial Lung Disease v1.0 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Bleeding and Platelet Disorders v1.16 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Ocular and Oculocutaneous Albinism v1.5 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Genomic newborn screening: BabyScreen+ v0.100 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Genomic newborn screening: BabyScreen+ v0.100 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.100 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 to Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997
Genomic newborn screening: BabyScreen+ v0.99 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Genomic newborn screening: BabyScreen+ v0.99 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.97 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Genomic newborn screening: BabyScreen+ v0.97 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.97 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Genomic newborn screening: BabyScreen+ v0.96 ANTXR2 Zornitza Stark Classified gene: ANTXR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.96 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.95 ANTXR2 Zornitza Stark reviewed gene: ANTXR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.95 ANO10 Zornitza Stark Marked gene: ANO10 as ready
Genomic newborn screening: BabyScreen+ v0.95 ANO10 Zornitza Stark Gene: ano10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.95 ANO10 Zornitza Stark Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 to Spinocerebellar ataxia, autosomal recessive 10, MIM#613728
Genomic newborn screening: BabyScreen+ v0.94 ANO10 Zornitza Stark Classified gene: ANO10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.94 ANO10 Zornitza Stark Gene: ano10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.93 ANO10 Zornitza Stark reviewed gene: ANO10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, MIM#613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.93 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Genomic newborn screening: BabyScreen+ v0.93 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.93 ANKRD26 Zornitza Stark Phenotypes for gene: ANKRD26 were changed from Thrombocytopenia 2 to Thrombocytopaenia 2, MIM# 188000
Genomic newborn screening: BabyScreen+ v0.92 ANKRD26 Zornitza Stark Classified gene: ANKRD26 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.92 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.91 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.91 ANKH Zornitza Stark Marked gene: ANKH as ready
Genomic newborn screening: BabyScreen+ v0.91 ANKH Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.91 ANKH Zornitza Stark Phenotypes for gene: ANKH were changed from Craniometaphyseal dysplasia to Craniometaphyseal dysplasia MIM#123000
Genomic newborn screening: BabyScreen+ v0.90 ANKH Zornitza Stark Classified gene: ANKH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.90 ANKH Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.89 ANKH Zornitza Stark reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.89 ANK2 Zornitza Stark Marked gene: ANK2 as ready
Genomic newborn screening: BabyScreen+ v0.89 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.89 ANK2 Zornitza Stark Classified gene: ANK2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.89 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.88 ANK2 Zornitza Stark reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.88 ANK1 Zornitza Stark Marked gene: ANK1 as ready
Genomic newborn screening: BabyScreen+ v0.88 ANK1 Zornitza Stark Gene: ank1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.88 ANK1 Zornitza Stark Phenotypes for gene: ANK1 were changed from Spherocytosis to Spherocytosis, type 1 MIM#182900
Genomic newborn screening: BabyScreen+ v0.87 ANK1 Zornitza Stark Mode of inheritance for gene: ANK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.86 ANK1 Zornitza Stark Classified gene: ANK1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.86 ANK1 Zornitza Stark Gene: ank1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.85 ANK1 Zornitza Stark edited their review of gene: ANK1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.85 ANK1 Zornitza Stark reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spherocytosis, type 1 MIM#182900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.85 AMT Zornitza Stark Marked gene: AMT as ready
Genomic newborn screening: BabyScreen+ v0.85 AMT Zornitza Stark Gene: amt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.85 AMT Zornitza Stark Phenotypes for gene: AMT were changed from Hyperglycinaemia, non-ketotic to Glycine encephalopathy MIM#605899
Genomic newborn screening: BabyScreen+ v0.84 AMT Zornitza Stark Classified gene: AMT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.84 AMT Zornitza Stark Gene: amt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.83 AMT Zornitza Stark reviewed gene: AMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark edited their review of gene: AMN: Changed phenotypes: Megaloblastic anaemia-1, Norwegian type, MIM#618882
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark Marked gene: AMN as ready
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark Tag for review tag was added to gene: AMN.
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark changed review comment from: Well established gene-disease association.

Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood.; to: Well established gene-disease association.

Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood.

Clinical features include failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections.

Treatment: cobalamin.
Genomic newborn screening: BabyScreen+ v0.83 AMN Zornitza Stark reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.345 Zornitza Stark HPO terms changed from to Cataract, HP:0000518
List of related panels changed from to Cataract; HP:0000518
Cardiomyopathy_Paediatric v0.134 Zornitza Stark HPO terms changed from to Cardiomyopathy, HP:0001638
List of related panels changed from to Cardiomyopathy; HP:0001638
Cardiomyopathy_Adult_SuperPanel v1.39 Zornitza Stark HPO terms changed from to Cardiomyopathy, HP:0001638
List of related panels changed from to Cardiomyopathy; HP:0001638
Callosome v0.463 Zornitza Stark HPO terms changed from to Abnormal corpus callosum morphology, HP:0001273
List of related panels changed from to Abnormal corpus callosum morphology; HP:0001273
Brain Calcification v1.15 Zornitza Stark HPO terms changed from to Cerebral calcification, HP:0002514
List of related panels changed from to Cerebral calcification; HP:0002514
Bone Marrow Failure v1.20 Zornitza Stark HPO terms changed from to Abnormality of multiple cell lineages of the bone marrow, HP:0012145
List of related panels changed from to Abnormality of multiple cell lineages of the bone marrow; HP:0012145
Blepharophimosis v1.1 Zornitza Stark HPO terms changed from to Blepharophimosis, HP:0000581
List of related panels changed from to Blepharophimosis; HP:0000581
Bleeding and Platelet Disorders v1.16 Zornitza Stark HPO terms changed from to Abnormal bleeding, HP:0001892;Abnormal thrombosis, HP:0001977
List of related panels changed from to Abnormal bleeding; HP:0001892;Abnormal thrombosis; HP:0001977
Autism v0.185 Zornitza Stark HPO terms changed from to Autism, HP:0000717
List of related panels changed from to Autism; HP:0000717
Atrial Fibrillation v1.1 Zornitza Stark HPO terms changed from to Atrial fibrillation, HP:0005110
List of related panels changed from to Atrial fibrillation; HP:0005110
Ataxia_Superpanel v0.532 Zornitza Stark List of related panels changed from to Ataxia; HP:0001251
Ataxia - paediatric v0.344 Zornitza Stark List of related panels changed from to Ataxia; HP:0001251
Ataxia - adult onset v0.171 Zornitza Stark List of related panels changed from to Ataxia; HP:0001251
Arthrogryposis v0.353 Zornitza Stark List of related panels changed from to Flexion contracture; HP:0001371
Arrhythmogenic Cardiomyopathy v0.61 Zornitza Stark HPO terms changed from to Arrhythmia, HP:0011675;Cardiomyopathy, HP:0001638
List of related panels changed from to Arrhythmia; HP:0011675;Cardiomyopathy; HP:0001638
Aortopathy_Connective Tissue Disorders v1.72 Zornitza Stark List of related panels changed from to Aortic aneurysm; HP:0004942;Joint dislocation; HP:0001373;Cutis laxa; HP:0000973; Ectopia lentis; HP:0001083;Arachnodactyly; HP:0001166
Anophthalmia_Microphthalmia_Coloboma v1.30 Zornitza Stark List of related panels changed from to Anophthalmia; HP:0000528;Microphthalmia; HP:0000568;Coloboma; HP:0000589
Amelogenesis imperfecta v1.4 Zornitza Stark List of related panels changed from to Amelogenesis imperfecta; HP:0000705
Alternating Hemiplegia and Hemiplegic Migraine v0.54 Zornitza Stark List of related panels changed from to Hemiplegia; HP:0002301;Migraine; HP:0002076
Achromatopsia v1.5 Zornitza Stark List of related panels changed from to Achromatopsia; HP:0011516
Skeletal Dysplasia_Fetal v0.121 Zornitza Stark removed gene:TRPS1 from the panel
Skeletal Dysplasia_Fetal v0.120 Zornitza Stark removed gene:TTC8 from the panel
Skeletal Dysplasia_Fetal v0.119 Zornitza Stark removed gene:TYROBP from the panel
Skeletal Dysplasia_Fetal v0.118 Zornitza Stark removed gene:USP9X from the panel
Skeletal Dysplasia_Fetal v0.117 Zornitza Stark removed gene:TWIST1 from the panel
Skeletal Dysplasia_Fetal v0.116 Zornitza Stark removed gene:UBA2 from the panel
Skeletal Dysplasia_Fetal v0.115 Zornitza Stark removed gene:TNFSF11 from the panel
Skeletal Dysplasia_Fetal v0.114 Zornitza Stark removed gene:TNFRSF11B from the panel
Skeletal Dysplasia_Fetal v0.113 Zornitza Stark removed gene:TONSL from the panel
Skeletal Dysplasia_Fetal v0.112 Zornitza Stark removed gene:TP63 from the panel
Skeletal Dysplasia_Fetal v0.111 WNT5A Zornitza Stark Marked gene: WNT5A as ready
Skeletal Dysplasia_Fetal v0.111 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.111 WNT5A Zornitza Stark Classified gene: WNT5A as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.111 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.110 Zornitza Stark removed gene:WNT10B from the panel
Skeletal Dysplasia_Fetal v0.109 Zornitza Stark removed gene:VDR from the panel
Skeletal Dysplasia_Fetal v0.108 Zornitza Stark removed gene:WISP3 from the panel
Skeletal Dysplasia_Fetal v0.107 Zornitza Stark removed gene:WNT7A from the panel
Skeletal Dysplasia_Fetal v0.105 Zornitza Stark removed gene:XRCC4 from the panel
Skeletal Dysplasia_Fetal v0.104 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Skeletal Dysplasia_Fetal v0.104 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.104 XYLT1 Zornitza Stark Classified gene: XYLT1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.104 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.103 Zornitza Stark removed gene:XYLT2 from the panel
Skeletal Dysplasia_Fetal v0.102 Zornitza Stark removed gene:YY1 from the panel
Skeletal Dysplasia_Fetal v0.101 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Skeletal Dysplasia_Fetal v0.101 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.101 ZMPSTE24 Zornitza Stark Classified gene: ZMPSTE24 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.101 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.100 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Skeletal Dysplasia_Fetal v0.100 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.100 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.100 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.99 Zornitza Stark removed gene:WDPCP from the panel
Skeletal Dysplasia_Fetal v0.98 Zornitza Stark removed gene:UFSP2 from the panel
Skeletal Dysplasia_Fetal v0.97 Zornitza Stark removed gene:TRAPPC2 from the panel
Skeletal Dysplasia_Fetal v0.96 Zornitza Stark removed gene:TREM2 from the panel
Skeletal Dysplasia_Fetal v0.95 TRPS1 Zornitza Stark Marked gene: TRPS1 as ready
Skeletal Dysplasia_Fetal v0.95 TRPS1 Zornitza Stark Gene: trps1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.95 TRPS1 Zornitza Stark Classified gene: TRPS1 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.95 TRPS1 Zornitza Stark Gene: trps1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.94 TRPS1 Zornitza Stark reviewed gene: TRPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.94 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Skeletal Dysplasia_Fetal v0.94 TTC8 Zornitza Stark Gene: ttc8 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.94 TTC8 Zornitza Stark Classified gene: TTC8 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.94 TTC8 Zornitza Stark Gene: ttc8 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.93 TTC8 Zornitza Stark reviewed gene: TTC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.93 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Skeletal Dysplasia_Fetal v0.93 TWIST1 Zornitza Stark Gene: twist1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.93 TWIST1 Zornitza Stark Classified gene: TWIST1 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.93 TWIST1 Zornitza Stark Gene: twist1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.92 TWIST1 Zornitza Stark Tag for review tag was added to gene: TWIST1.
Skeletal Dysplasia_Fetal v0.92 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.92 TYROBP Zornitza Stark Marked gene: TYROBP as ready
Skeletal Dysplasia_Fetal v0.92 TYROBP Zornitza Stark Gene: tyrobp has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.92 TYROBP Zornitza Stark Classified gene: TYROBP as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.92 TYROBP Zornitza Stark Gene: tyrobp has been classified as Red List (Low Evidence).
Leukodystrophy - adult onset v0.104 C1R Deepak Subramanian gene: C1R was added
gene: C1R was added to Leukodystrophy - adult onset. Sources: Literature,Other
Mode of inheritance for gene: C1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1R were set to 8958339; 30535813
Phenotypes for gene: C1R were set to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080); Leukodystrophy - adult onset
Penetrance for gene: C1R were set to unknown
Mode of pathogenicity for gene: C1R was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: C1R was set to AMBER
Added comment: Classic periodontal EDS (pEDS) phenotype is associated with gain-of-function mutations in this gene (Kapferer-Seebacher, van Dijk, and Zschocke, GeneReviews, 2021). Earlier case reports noted the presence of leukodystrophy in one 37-year-old female with clinically-diagnosed pEDS (PMID: 8958339) and eight adult individuals from two families with heterozygous mutations in C1R (PMID: 30535813), where other causes of leukodystrophy were ruled out or considered unlikely. Recent data presented at the 2022 EDS International Scientific Symposium by Angwin et al (Oral Abstract 91) highlighted nine more adults with clinically and molecularly confirmed pEDS with evidence of leukodystrophy (out of ten such patients with available imaging). Nearly all patients reported to date have no cognitive deficits or other neurological features of leukodystrophy, with only isolated cases of recurrent headaches/drop attacks or mild cognitive decline/ataxia that might have a different aetiology. Pathophysiology is thought to result from underlying small vessel disease (similar in pattern to that of CADASIL) which progresses with age and is disproportionate to the observed neurological phenotype in these individuals.
Sources: Literature, Other
Skeletal dysplasia v0.209 ALPL Zornitza Stark reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31413732, 30811537; Phenotypes: Hypophosphatasia, adult 146300 (AD, AR), Hypophosphatasia, childhood 241510 AR, Hypophosphatasia, infantile 241500 AR, Odontohypophosphatasia 146300 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.209 ALPL Zornitza Stark Marked gene: ALPL as ready
Skeletal dysplasia v0.209 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Skeletal dysplasia v0.209 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from hypophosphatasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR
Skeletal dysplasia v0.208 ALPL Zornitza Stark Publications for gene: ALPL were set to
Skeletal dysplasia v0.207 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Osteogenesis Imperfecta and Osteoporosis v0.85 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Mendeliome v1.338 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Craniosynostosis v1.40 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Skeletal Dysplasia_Fetal v0.91 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Genomic newborn screening: BabyScreen+ v0.83 ALPL Zornitza Stark Marked gene: ALPL as ready
Genomic newborn screening: BabyScreen+ v0.83 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.83 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from Hypophosphatasia, MIM#241500 to Hypophosphatasia, childhood OMIM#241510; Hypophosphatasia, infantile OMIM#241500
Genomic newborn screening: BabyScreen+ v0.82 ALPL Zornitza Stark Publications for gene: ALPL were set to
Genomic newborn screening: BabyScreen+ v0.81 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Genomic newborn screening: BabyScreen+ v0.81 ALPL Zornitza Stark edited their review of gene: ALPL: Changed publications: 31413732, 30811537
Genomic newborn screening: BabyScreen+ v0.81 ALPL Zornitza Stark reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia, childhood OMIM#241510, Hypophosphatasia, infantile OMIM#241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.81 AMELX Zornitza Stark Marked gene: AMELX as ready
Genomic newborn screening: BabyScreen+ v0.81 AMELX Zornitza Stark Gene: amelx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.81 AMELX Zornitza Stark Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta to Amelogenesis imperfecta, type 1E, MIM# 301200
Genomic newborn screening: BabyScreen+ v0.80 AMELX Zornitza Stark Classified gene: AMELX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.80 AMELX Zornitza Stark Gene: amelx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.79 AMELX Zornitza Stark reviewed gene: AMELX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type 1E, MIM# 301200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.79 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Genomic newborn screening: BabyScreen+ v0.79 ALX4 Zornitza Stark Gene: alx4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.79 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from Parietal foramina 2 to Frontonasal dysplasia 2 MIM# 613451; Parietal foramina 2 MIM# 609597; {Craniosynostosis 5, susceptibility to} MIM#615529
Genomic newborn screening: BabyScreen+ v0.78 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.77 ALX4 Zornitza Stark Classified gene: ALX4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.77 ALX4 Zornitza Stark Gene: alx4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.76 ALX4 Zornitza Stark reviewed gene: ALX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 2 MIM# 613451, Parietal foramina 2 MIM# 609597, {Craniosynostosis 5, susceptibility to} MIM#615529; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.76 ALOXE3 Zornitza Stark Marked gene: ALOXE3 as ready
Genomic newborn screening: BabyScreen+ v0.76 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.76 ALOXE3 Zornitza Stark Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 3, MIM#606545
Genomic newborn screening: BabyScreen+ v0.75 ALOXE3 Zornitza Stark Classified gene: ALOXE3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.75 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.74 ALOXE3 Zornitza Stark reviewed gene: ALOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM#606545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.74 ALS2 Zornitza Stark Marked gene: ALS2 as ready
Genomic newborn screening: BabyScreen+ v0.74 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.74 ALS2 Zornitza Stark Phenotypes for gene: ALS2 were changed from Amyotrophic lateral sclerosis to Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100); Juvenile primary lateral sclerosis (MIM#606353)
Genomic newborn screening: BabyScreen+ v0.73 ALS2 Zornitza Stark Classified gene: ALS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.73 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.72 ALS2 Zornitza Stark reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile onset ascending spastic paralysis (MIM#607225), Juvenile amyotrophic lateral sclerosis 2 (MIM#205100), Juvenile primary lateral sclerosis (MIM#606353); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.72 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Genomic newborn screening: BabyScreen+ v0.72 ALOX12B Zornitza Stark Gene: alox12b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.72 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Genomic newborn screening: BabyScreen+ v0.71 ALOX12B Zornitza Stark Classified gene: ALOX12B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.71 ALOX12B Zornitza Stark Gene: alox12b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.70 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.91 TNFRSF11B Krithika Murali gene: TNFRSF11B was added
gene: TNFRSF11B was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11B were set to 14672344
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset - MIM#239000
Review for gene: TNFRSF11B was set to RED
Added comment: Onset of skeletal features in the first decade of life with prenatal anomalies not described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TNFSF11 Krithika Murali gene: TNFSF11 was added
gene: TNFSF11 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF11 were set to 17632511; 32048120; 10984520
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, MIM# 259710
Review for gene: TNFSF11 was set to RED
Added comment: Prenatal skeletal anomalies not described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TONSL Krithika Murali gene: TONSL was added
gene: TONSL was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 30773277; 30773278; 32959051
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068
Review for gene: TONSL was set to RED
Added comment: Prenatal skeletal anomalies not reported.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TP63 Krithika Murali gene: TP63 was added
gene: TP63 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP63 were set to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289
Review for gene: TP63 was set to GREEN
Added comment: Skeletal anomalies including split hand foot malformation, missing metatarsals can be detected antenatally.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TRAPPC2 Krithika Murali gene: TRAPPC2 was added
gene: TRAPPC2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda -MIM#313400
Review for gene: TRAPPC2 was set to RED
Added comment: Prenatal features not described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TREM2 Krithika Murali gene: TREM2 was added
gene: TREM2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREM2 were set to 12080485; 15883308
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 - MIM#618193
Review for gene: TREM2 was set to RED
Added comment: Associated with adult-onset skeletal anomalies
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TRPS1 Krithika Murali gene: TRPS1 was added
gene: TRPS1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPS1 were set to 25792522; 28426188
Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I - MIM#190350; Trichorhinophalangeal syndrome, type III - MIM#190351
Review for gene: TRPS1 was set to AMBER
Added comment: Prenatal diagnosis not described in the literature PMID 25792522 report 4/24 patients in a cohort as having <-2SD birth length.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TTC8 Krithika Murali gene: TTC8 was added
gene: TTC8 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC8 were set to 14520415; 19797195
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8 - MIM#615985
Review for gene: TTC8 was set to GREEN
Added comment: Polydactyly is an associated skeletal feature amenable to prenatal detection.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TWIST1 Krithika Murali gene: TWIST1 was added
gene: TWIST1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TWIST1 were set to 17343269; 9585583; 12116251; 31299755; 30040876
Phenotypes for gene: TWIST1 were set to Craniosynostosis 1 - MIM#123100; Saethre-Chotzen syndrome with or without eyelid anomalies - MIM# 101400; Sweeny-Cox syndrome - MIM# 617746; Robinow-Sorauf syndrome - MIM#180750
Review for gene: TWIST1 was set to GREEN
gene: TWIST1 was marked as current diagnostic
Added comment: Some skeletal features of TWIST1-associated disorders amenable to prenatal diagnosis - craniosynostosis (head shape anomalies on antenatal USS), digital anomalies (e.g. absent metatarsal), talipes equinovarus.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TYROBP Krithika Murali gene: TYROBP was added
gene: TYROBP was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYROBP were set to 20301376
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1- MIM#221770
Review for gene: TYROBP was set to RED
Added comment: Associated with adult-onset skeletal anomalies (typically 3rd decade of life)
Sources: Expert list, Literature
Mendeliome v1.338 ANO1 Zornitza Stark Phenotypes for gene: ANO1 were changed from Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features to Intestinal dysmotility syndrome, MIM# 620045; Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features
Mendeliome v1.337 ANO1 Zornitza Stark reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intestinal dysmotility syndrome, MIM# 620045; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v1.10 ANO1 Zornitza Stark Phenotypes for gene: ANO1 were changed from Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features to Intestinal dysmotility syndrome, MIM# 620045; Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features
Congenital Diarrhoea v1.9 ANO1 Zornitza Stark edited their review of gene: ANO1: Changed phenotypes: Intestinal dysmotility syndrome, MIM# 620045, Impaired intestinal peristalsis, haemorrhagic diarrhoea, dysmorphic features
Genomic newborn screening: BabyScreen+ v0.70 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Genomic newborn screening: BabyScreen+ v0.70 ALG14 Zornitza Stark Gene: alg14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.70 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation
Genomic newborn screening: BabyScreen+ v0.69 ALG14 Zornitza Stark Classified gene: ALG14 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.69 ALG14 Zornitza Stark Gene: alg14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.68 ALG14 Zornitza Stark Tag for review tag was added to gene: ALG14.
Genomic newborn screening: BabyScreen+ v0.68 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.68 AKR1D1 Zornitza Stark Marked gene: AKR1D1 as ready
Genomic newborn screening: BabyScreen+ v0.68 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.68 AK2 Zornitza Stark Marked gene: AK2 as ready
Genomic newborn screening: BabyScreen+ v0.68 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.68 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Genomic newborn screening: BabyScreen+ v0.68 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.68 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from Polymicrogyria, bilateral frontoparietal to Polymicrogyria, bilateral frontoparietal, MIM#606854
Genomic newborn screening: BabyScreen+ v0.67 ADGRG1 Zornitza Stark Classified gene: ADGRG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.67 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.66 ADGRG1 Zornitza Stark reviewed gene: ADGRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v1.7 ADAMTS13 Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
Mendeliome v1.337 ADAMTS13 Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
Genomic newborn screening: BabyScreen+ v0.66 ADAMTS13 Zornitza Stark Publications for gene: ADAMTS13 were set to
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark edited their review of gene: ADAMTS13: Changed publications: 31759790
Bleeding and Platelet Disorders v1.15 ADAMTS13 Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.65 ADAMTS13 Zornitza Stark reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency (absent T absent B cells) v1.1 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
Combined Immunodeficiency v1.26 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
Bone Marrow Failure v1.19 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
Mendeliome v1.337 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
Genomic newborn screening: BabyScreen+ v0.65 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
Genomic newborn screening: BabyScreen+ v0.65 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Genomic newborn screening: BabyScreen+ v0.64 AK2 Zornitza Stark Publications for gene: AK2 were set to
Genomic newborn screening: BabyScreen+ v0.63 AK2 Zornitza Stark reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v1.6 AGRN Zornitza Stark Tag treatable tag was added to gene: AGRN.
Tag clinical trial tag was added to gene: AGRN.
Mendeliome v1.337 AGRN Zornitza Stark Tag treatable tag was added to gene: AGRN.
Tag clinical trial tag was added to gene: AGRN.
Genomic newborn screening: BabyScreen+ v0.63 AGRN Zornitza Stark Marked gene: AGRN as ready
Genomic newborn screening: BabyScreen+ v0.63 AGRN Zornitza Stark Gene: agrn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.63 AGRN Zornitza Stark Phenotypes for gene: AGRN were changed from Myasthenia, limb-girdle, familial, MIM#615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark Tag clinical trial tag was added to gene: AGRN.
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark Tag treatable tag was added to gene: AGRN.
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark changed review comment from: Three unrelated families reported.

Severe, congenital disorder.

Treatment available: salbutamol, acetylcholine-esterase inhibitors.; to: Three unrelated families reported.

Severe, congenital disorder.

Treatment available: salbutamol, acetylcholine-esterase inhibitors.

Clinical trial: 3,4-Diaminopyridine.
Genomic newborn screening: BabyScreen+ v0.62 AGRN Zornitza Stark reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.62 ADA Zornitza Stark Marked gene: ADA as ready
Genomic newborn screening: BabyScreen+ v0.62 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.62 ADA Zornitza Stark Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency, MIM#102700 to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064
Genomic newborn screening: BabyScreen+ v0.61 ADA Zornitza Stark Publications for gene: ADA were set to
Genomic newborn screening: BabyScreen+ v0.60 ADA Zornitza Stark Tag treatable tag was added to gene: ADA.
Tag clinical trial tag was added to gene: ADA.
Genomic newborn screening: BabyScreen+ v0.60 ADA Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 33974366; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.60 ACTN1 Zornitza Stark Marked gene: ACTN1 as ready
Genomic newborn screening: BabyScreen+ v0.60 ACTN1 Zornitza Stark Gene: actn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.60 ACTN1 Zornitza Stark Phenotypes for gene: ACTN1 were changed from Macrothrombocytopenia to Bleeding disorder, platelet-type, 15, MIM# 615193
Genomic newborn screening: BabyScreen+ v0.59 ACTN1 Zornitza Stark Classified gene: ACTN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.59 ACTN1 Zornitza Stark Gene: actn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.58 ACTN1 Zornitza Stark reviewed gene: ACTN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bleeding disorder, platelet-type, 15, MIM# 615193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v1.18 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Familial hypercholesterolaemia v0.25 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Dyslipidaemia v0.35 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Dyslipidaemia v0.35 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Dyslipidaemia v0.35 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from Sitosterolemia to Sitosterolaemia 2, MIM# 618666
Dyslipidaemia v0.34 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.34 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Bleeding and Platelet Disorders v1.15 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Mendeliome v1.337 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Genomic newborn screening: BabyScreen+ v0.58 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Genomic newborn screening: BabyScreen+ v0.58 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.58 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from Sitosterolemia to Sitosterolaemia 2, MIM# 618666
Genomic newborn screening: BabyScreen+ v0.57 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Genomic newborn screening: BabyScreen+ v0.57 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.57 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Genomic newborn screening: BabyScreen+ v0.57 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.57 ABCD1 Zornitza Stark Tag for review tag was added to gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.57 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy to Adrenoleukodystrophy, MIM# 300100
Genomic newborn screening: BabyScreen+ v0.56 ABCD1 Zornitza Stark Tag treatable tag was added to gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.56 ABCD1 Zornitza Stark reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark Tag for review tag was added to gene: ABCC6.
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark changed review comment from: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.; to: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.
Genomic newborn screening: BabyScreen+ v0.56 ABCC6 Zornitza Stark Publications for gene: ABCC6 were set to
Genomic newborn screening: BabyScreen+ v0.55 ABCC6 Zornitza Stark Tag treatable tag was added to gene: ABCC6.
Genomic newborn screening: BabyScreen+ v0.55 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33005041, 34355424; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.337 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM#177850 to Arterial calcification, generalized, of infancy, 2, MIM# 614473; Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM#177850
Mendeliome v1.336 ABCC6 Zornitza Stark Publications for gene: ABCC6 were set to 11536079; 28102862
Mendeliome v1.335 ABCC6 Zornitza Stark Tag treatable tag was added to gene: ABCC6.
Mendeliome v1.335 ABCC6 Zornitza Stark edited their review of gene: ABCC6: Added comment: GACI is a treatable disorder.; Changed rating: GREEN; Changed publications: 33005041, 34355424; Changed phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.55 ABCC2 Zornitza Stark Marked gene: ABCC2 as ready
Genomic newborn screening: BabyScreen+ v0.55 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.55 ABCC2 Zornitza Stark Classified gene: ABCC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.55 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.54 ABCC2 Zornitza Stark reviewed gene: ABCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.54 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Genomic newborn screening: BabyScreen+ v0.54 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.54 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803)
Genomic newborn screening: BabyScreen+ v0.53 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.52 ABCB4 Zornitza Stark Classified gene: ABCB4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.52 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.51 ABCB4 Zornitza Stark reviewed gene: ABCB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347, disorder of bile acid metabolism, Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.51 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Genomic newborn screening: BabyScreen+ v0.51 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.51 ABCB11 Zornitza Stark Phenotypes for gene: ABCB11 were changed from Cholestasis, progressive familial intrahepatic 2 to Cholestasis, progressive familial intrahepatic 2, MIM# 601847; Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479
Genomic newborn screening: BabyScreen+ v0.50 ABCB11 Zornitza Stark Classified gene: ABCB11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.50 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.49 ABCB11 Zornitza Stark reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.49 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Genomic newborn screening: BabyScreen+ v0.49 ABCA4 Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.49 ABCA4 Zornitza Stark Phenotypes for gene: ABCA4 were changed from Stargardt disease to Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200
Genomic newborn screening: BabyScreen+ v0.48 ABCA4 Zornitza Stark Classified gene: ABCA4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.48 ABCA4 Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.47 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; 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
Genomic newborn screening: BabyScreen+ v0.47 ABCA3 Zornitza Stark Marked gene: ABCA3 as ready
Genomic newborn screening: BabyScreen+ v0.47 ABCA3 Zornitza Stark Gene: abca3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.47 ABCA3 Zornitza Stark Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary, 3 to Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921
Genomic newborn screening: BabyScreen+ v0.46 ABCA3 Zornitza Stark Classified gene: ABCA3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.46 ABCA3 Zornitza Stark Gene: abca3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.45 ABCA3 Zornitza Stark reviewed gene: ABCA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.45 ABCA12 Zornitza Stark Marked gene: ABCA12 as ready
Genomic newborn screening: BabyScreen+ v0.45 ABCA12 Zornitza Stark Gene: abca12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.45 ABCA12 Zornitza Stark Phenotypes for gene: ABCA12 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
Genomic newborn screening: BabyScreen+ v0.44 ABCA12 Zornitza Stark Classified gene: ABCA12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.44 ABCA12 Zornitza Stark Gene: abca12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.43 ABCA12 Zornitza Stark reviewed gene: ABCA12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.43 AARS Zornitza Stark Marked gene: AARS as ready
Genomic newborn screening: BabyScreen+ v0.43 AARS Zornitza Stark Gene: aars has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.43 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Charcot-Marie-Tooth disease to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287
Genomic newborn screening: BabyScreen+ v0.42 AARS Zornitza Stark Mode of inheritance for gene: AARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.41 AARS Zornitza Stark Classified gene: AARS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.41 AARS Zornitza Stark Gene: aars has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.40 AARS Zornitza Stark reviewed gene: AARS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339, Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.91 UBA2 Krithika Murali gene: UBA2 was added
gene: UBA2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,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 ACCES syndrome-MIM#619959
Review for gene: UBA2 was set to GREEN
Added comment: Associated with skeletal anomalies amenable to antenatal detection including split hand/foot malformation, polydactyly and tibial deficiency.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 UFSP2 Krithika Murali changed review comment from: Reported skeletal anomalies reported not detectable in the prenatal setting.
Sources: Expert list, Literature; to: Reported skeletal anomalies not detectable in the prenatal setting.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 UFSP2 Krithika Murali gene: UFSP2 was added
gene: UFSP2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: UFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UFSP2 were set to 26428751; 28892125; 32755715
Phenotypes for gene: UFSP2 were set to Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Review for gene: UFSP2 was set to RED
Added comment: Reported skeletal anomalies reported not detectable in the prenatal setting.
Sources: Expert list, Literature
Fetal anomalies v1.69 USP9X Krithika Murali Deleted their review
Skeletal Dysplasia_Fetal v0.91 USP9X Krithika Murali gene: USP9X was added
gene: USP9X was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: USP9X were set to 31443933; 26833328
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)
Review for gene: USP9X was set to GREEN
Added comment: Associated with skeletal anomalies - postaxial polydactyly may be detected on antenatal USS.
---
Gene-disease relationship is well-established. There are XLD (female-restricted) and XLR phenotypes.

Many (at least 17) females with de novo loss-of-function variants reported with a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations (PMID:26833328). Males are not reported with these variants (presumed embryonic lethal, as is the case in null mice).

Affected males (at least 12) have been reported with partial loss of function missense variants (PMID:31443933). Unaffected female carriers were reported in some of these families.
Sources: Expert list, Literature
Fetal anomalies v1.69 USP9X Krithika Murali reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal Dysplasia_Fetal v0.91 VDR Krithika Murali gene: VDR was added
gene: VDR was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA - MIM#277440
Review for gene: VDR was set to RED
Added comment: Vitamin D-resistant rickets not presenting antenatally.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 WDPCP Krithika Murali gene: WDPCP was added
gene: WDPCP was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDPCP were set to 20671153; 25427950; 32055034; 29588463; 28289185
Phenotypes for gene: WDPCP were set to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Review for gene: WDPCP was set to GREEN
Added comment: Associated with ciliopathy phenotype, including skeletal anomalies such as polydactyly amenable to antenatal USS detection.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 WISP3 Krithika Murali gene: WISP3 was added
gene: WISP3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WISP3 were set to 26610319
Phenotypes for gene: WISP3 were set to Progressive pseudorheumatoid dysplasia-MIM#208230
Review for gene: WISP3 was set to RED
Added comment: CCN6 HGNC approved name. Progressive childhood onset disorder. Prenatal features not described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 WNT10B Krithika Murali gene: WNT10B was added
gene: WNT10B was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT10B were set to 20635353; 24211389; 27321946
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 - MIM#225300
Review for gene: WNT10B was set to GREEN
Added comment: Biallelic variants associated with split hand/foot malformation. Reported in >3 unrelated families, with a Pakistani bias. Detectable on antenatal ultrasound.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 WNT5A Krithika Murali gene: WNT5A was added
gene: WNT5A was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNT5A were set to 17256787
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1; OMIM# 180700
Review for gene: WNT5A was set to GREEN
Added comment: Associated mesomelic/rhizomelic can be detected prenatally.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 WNT7A Krithika Murali gene: WNT7A was added
gene: WNT7A was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7A were set to 21344627; 20949531; 16826533
Phenotypes for gene: WNT7A were set to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
Review for gene: WNT7A was set to GREEN
Added comment: Associated limb anomalies amenable to prenatal detection
Sources: Literature
Autoinflammatory Disorders v0.164 DPP9 Peter McNaughton gene: DPP9 was added
gene: DPP9 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPP9 were set to PMID: 36112693
Phenotypes for gene: DPP9 were set to recurrent fevers; repeated infections; herpes susceptibility; cytopaenias
Review for gene: DPP9 was set to GREEN
Added comment: Three unrelated families with Hatipoğlu syndrome with biochemical and cellular assays, mouse and zebrafish models. Immunological features of recurrent fevers, repeated infections, herpes susceptibility, cytopaenias.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.40 AAAS Zornitza Stark Marked gene: AAAS as ready
Genomic newborn screening: BabyScreen+ v0.40 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.40 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Genomic newborn screening: BabyScreen+ v0.39 AAAS Zornitza Stark Publications for gene: AAAS were set to
Genomic newborn screening: BabyScreen+ v0.38 AAAS Zornitza Stark Tag for review tag was added to gene: AAAS.
Genomic newborn screening: BabyScreen+ v0.38 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29255950; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Intellectual disability syndromic and non-syndromic v0.4944 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Intellectual disability syndromic and non-syndromic v0.4944 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4944 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100
Intellectual disability syndromic and non-syndromic v0.4943 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to
Intellectual disability syndromic and non-syndromic v0.4942 ALDH7A1 Zornitza Stark Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4941 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Intellectual disability syndromic and non-syndromic v0.4941 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200442; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1668 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Genetic Epilepsy v0.1668 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1668 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100
Genetic Epilepsy v0.1667 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to 33200442
Genetic Epilepsy v0.1666 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to
Genetic Epilepsy v0.1665 ALDH7A1 Zornitza Stark Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1664 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Genetic Epilepsy v0.1664 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200442; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.38 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Genomic newborn screening: BabyScreen+ v0.38 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v1.5 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Genomic newborn screening: BabyScreen+ v0.38 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to
Mendeliome v1.335 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Genomic newborn screening: BabyScreen+ v0.37 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Genomic newborn screening: BabyScreen+ v0.37 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200442; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.37 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Genomic newborn screening: BabyScreen+ v0.37 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.37 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Genomic newborn screening: BabyScreen+ v0.36 ALDH5A1 Zornitza Stark Classified gene: ALDH5A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.36 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.35 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.35 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Genomic newborn screening: BabyScreen+ v0.35 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.35 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome to Sjogren-Larsson syndrome MIM#270200
Genomic newborn screening: BabyScreen+ v0.34 ALDH3A2 Zornitza Stark Classified gene: ALDH3A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.34 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.33 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome MIM#270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.33 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Genomic newborn screening: BabyScreen+ v0.33 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.33 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism
Genomic newborn screening: BabyScreen+ v0.32 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.31 ALDH18A1 Zornitza Stark Classified gene: ALDH18A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.31 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.30 ALDH18A1 Zornitza Stark reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIIA MIM#219150, Spastic paraplegia 9A, autosomal dominant MIM#601162, Spastic paraplegia 9B, autosomal recessive MIM#616586, Cutis laxa, autosomal dominant 3 MIM#616603, disorders of ornithine or proline metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.30 ALB Zornitza Stark Marked gene: ALB as ready
Genomic newborn screening: BabyScreen+ v0.30 ALB Zornitza Stark Gene: alb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.30 ALB Zornitza Stark Phenotypes for gene: ALB were changed from Analbuminemia to Analbuminemia, MIM# 616000
Genomic newborn screening: BabyScreen+ v0.29 ALB Zornitza Stark Classified gene: ALB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.29 ALB Zornitza Stark Gene: alb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.28 ALB Zornitza Stark reviewed gene: ALB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Analbuminemia, MIM# 616000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.28 ALAS2 Zornitza Stark Marked gene: ALAS2 as ready
Genomic newborn screening: BabyScreen+ v0.28 ALAS2 Zornitza Stark Gene: alas2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.28 ALAS2 Zornitza Stark Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, X-linked to Anaemia, sideroblastic, 1, MIM# 300751; Protoporphyria, erythropoietic, X-linked, MIM# 300752
Genomic newborn screening: BabyScreen+ v0.27 ALAS2 Zornitza Stark Classified gene: ALAS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.27 ALAS2 Zornitza Stark Gene: alas2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.26 ALAS2 Zornitza Stark Tag for review tag was added to gene: ALAS2.
Genomic newborn screening: BabyScreen+ v0.26 ALAS2 Zornitza Stark reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, sideroblastic, 1, MIM# 300751, Protoporphyria, erythropoietic, X-linked, MIM# 300752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Miscellaneous Metabolic Disorders v1.23 AKR1D1 Zornitza Stark Tag treatable tag was added to gene: AKR1D1.
Liver Failure_Paediatric v1.19 AKR1D1 Zornitza Stark Tag treatable tag was added to gene: AKR1D1.
Cholestasis v0.234 AKR1D1 Zornitza Stark Tag treatable tag was added to gene: AKR1D1.
Mendeliome v1.335 AKR1D1 Zornitza Stark Tag treatable tag was added to gene: AKR1D1.
Genomic newborn screening: BabyScreen+ v0.26 AKR1D1 Zornitza Stark Tag for review tag was added to gene: AKR1D1.
Tag treatable tag was added to gene: AKR1D1.
Genomic newborn screening: BabyScreen+ v0.26 AKR1D1 Zornitza Stark reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12970144, 20522910, 30373615; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.91 XRCC4 Krithika Murali gene: XRCC4 was added
gene: XRCC4 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to 32524007; 25728776; 25839420
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Review for gene: XRCC4 was set to GREEN
Added comment: Prenatal-onset severe global growth failure consistently described
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 XYLT1 Krithika Murali gene: XYLT1 was added
gene: XYLT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT1 were set to 35081921; 30554721; 24581741; 23982343
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome
Review for gene: XYLT1 was set to GREEN
Added comment: Prenatally detected skeletal anomalies such as short long bones described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 XYLT2 Krithika Murali gene: XYLT2 was added
gene: XYLT2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26027496; 26987875; 30891060; 34925453; 35186392
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM# 605822
Review for gene: XYLT2 was set to AMBER
Added comment: Prenatal skeletal manifestations not described in the published literature. Early onset scoliosis and fractures reported, including in children <12 months old.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.26 AIRE Zornitza Stark Marked gene: AIRE as ready
Genomic newborn screening: BabyScreen+ v0.26 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.26 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Genomic newborn screening: BabyScreen+ v0.25 AIRE Zornitza Stark Tag for review tag was added to gene: AIRE.
Tag treatable tag was added to gene: AIRE.
Genomic newborn screening: BabyScreen+ v0.25 AIRE Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 32557834; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.91 ZSWIM6 Krithika Murali changed review comment from: AFND has multiple clinical features amenable to prenatal diagnosis including hypertelorism, nasal malformation, cleft palate, preaxial polydactyly, lower limb malformation, talipes equinovarus and CNS anomalies. Prenatal diagnosis has been reported in the published literature (PMID: 33776626).
Sources: Literature; to: AFND has multiple skeletal features amenable to prenatal diagnosis including preaxial polydactyly, mesomelic shortening and lower limb malformations. Prenatal diagnosis on the basis of skeletal features and other anomalies has been reported in the published literature (PMID: 33776626).

Sources: Literature
Skeletal Dysplasia_Fetal v0.91 YY1 Krithika Murali gene: YY1 was added
gene: YY1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to PMID 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome - MIM#617557
Review for gene: YY1 was set to GREEN
Added comment: Skeletal anomalies that may be detected prenatally reported including hemihypertrophy of the lower limb, distal arthrogryposis and craniosynostosis.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.25 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Genomic newborn screening: BabyScreen+ v0.25 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.25 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from Cowchock syndrome to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Genomic newborn screening: BabyScreen+ v0.24 AIFM1 Zornitza Stark Classified gene: AIFM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.24 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.23 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.23 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Genomic newborn screening: BabyScreen+ v0.23 AHI1 Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.23 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome-3 to Joubert syndrome 3, MIM# 608629
Genomic newborn screening: BabyScreen+ v0.22 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Genomic newborn screening: BabyScreen+ v0.21 AHI1 Zornitza Stark Classified gene: AHI1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.21 AHI1 Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.20 AHI1 Zornitza Stark reviewed gene: AHI1: Rating: RED; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.20 AGXT Zornitza Stark Marked gene: AGXT as ready
Genomic newborn screening: BabyScreen+ v0.20 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.20 AGXT Zornitza Stark Phenotypes for gene: AGXT were changed from Hyperoxaluria, primary, type 1 to Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823
Genomic newborn screening: BabyScreen+ v0.19 AGXT Zornitza Stark Publications for gene: AGXT were set to
Hereditary Neuropathy - complex v0.134 AGXT Zornitza Stark Tag clinical trial tag was added to gene: AGXT.
Hereditary Neuropathy - complex v0.134 AGXT Zornitza Stark Tag treatable tag was added to gene: AGXT.
Mendeliome v1.335 AGXT Zornitza Stark Tag treatable tag was added to gene: AGXT.
Tag clinical trial tag was added to gene: AGXT.
Genomic newborn screening: BabyScreen+ v0.18 AGXT Zornitza Stark Tag for review tag was added to gene: AGXT.
Tag treatable tag was added to gene: AGXT.
Tag clinical trial tag was added to gene: AGXT.
Genomic newborn screening: BabyScreen+ v0.18 AGXT Zornitza Stark reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33789010; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.91 ZMPSTE24 Krithika Murali gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 11923874; 22718200; 29794150; 29208544; 12913070; 27410998; 27409638; 15937076; 16671095; 22718200; 29794150; 24169522
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143
Review for gene: ZMPSTE24 was set to GREEN
Added comment: Severity of disease correlates with residual enzyme activity.

Mandibuloacral dysplasia is the milder phenotype and is characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acroosteolysis, cutaneous atrophy, and lipodystrophy. Results from one hylomorphic allele in trans with a second hylomorphic or null allele.

Hutchinson-Guildford progeria syndrome, atypical: limited evidence of association, 2 cases reported. Intermediate between the two more common phenotypes.

Restrictive dermatopathy, lethal: results from bi-allelic null alleles, tautness of the skin causes fetal akinesia or hypokinesia deformation sequence. 44 families reported, p.Leu362Phefs*18 identified in ~60%, founder effect in Mennonite and Hutterite populations.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 ZSWIM6 Krithika Murali gene: ZSWIM6 was added
gene: ZSWIM6 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to PMID: 33776626
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis - MIM#603671
Review for gene: ZSWIM6 was set to GREEN
Added comment: AFND has multiple clinical features amenable to prenatal diagnosis including hypertelorism, nasal malformation, cleft palate, preaxial polydactyly, lower limb malformation, talipes equinovarus and CNS anomalies. Prenatal diagnosis has been reported in the published literature (PMID: 33776626).
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.18 AGA Zornitza Stark Marked gene: AGA as ready
Genomic newborn screening: BabyScreen+ v0.18 AGA Zornitza Stark Gene: aga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.18 AGA Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria to Aspartylglucosaminuria, MIM# 208400 MONDO:0008830
Genomic newborn screening: BabyScreen+ v0.17 AGA Zornitza Stark Classified gene: AGA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.17 AGA Zornitza Stark Gene: aga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.16 AGA Zornitza Stark reviewed gene: AGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM# 208400 MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.16 ADK Zornitza Stark Marked gene: ADK as ready
Genomic newborn screening: BabyScreen+ v0.16 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.16 ADK Zornitza Stark Phenotypes for gene: ADK were changed from Hypermethioninemia due to adenosine kinase deficiency to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Genomic newborn screening: BabyScreen+ v0.15 ADK Zornitza Stark Publications for gene: ADK were set to
Genomic newborn screening: BabyScreen+ v0.14 ADK Zornitza Stark Classified gene: ADK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.14 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.13 ADK Zornitza Stark reviewed gene: ADK: Rating: RED; Mode of pathogenicity: None; Publications: 21963049, 17120046, 33309011; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.13 ADAR Zornitza Stark Marked gene: ADAR as ready
Genomic newborn screening: BabyScreen+ v0.13 ADAR Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.13 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria to Aicardi-Goutieres syndrome 6, MIM# 615010
Genomic newborn screening: BabyScreen+ v0.12 ADAR Zornitza Stark Publications for gene: ADAR were set to
Genomic newborn screening: BabyScreen+ v0.11 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.10 ADAR Zornitza Stark Classified gene: ADAR as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.10 ADAR Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.9 ADAR Zornitza Stark Tag for review tag was added to gene: ADAR.
Tag treatable tag was added to gene: ADAR.
Tag clinical trial tag was added to gene: ADAR.
Genomic newborn screening: BabyScreen+ v0.9 ADAR Zornitza Stark reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 C17orf53 Elena Tucker commented on gene: C17orf53: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency
PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells.

Additional publication describing a homozygous LOF variant in an individual with POI and corresponding sensitivity to DNA damage elevates confidence in the gene as a cause of POI:
PMID: 36099812
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 CLPB Elena Tucker gene: CLPB was added
gene: CLPB was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to PMID: 36074910
Phenotypes for gene: CLPB were set to syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction
Review for gene: CLPB was set to GREEN
Added comment: PMID: 36074910
Affected individuals that survive beyond puberty experience premature ovarian insufficiency
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.9 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Genomic newborn screening: BabyScreen+ v0.9 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.9 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 to Geleophysic dysplasia 1, MIM# 231050
Genomic newborn screening: BabyScreen+ v0.8 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.8 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.7 ADAMTSL2 Zornitza Stark reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM# 231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.7 ACTN4 Zornitza Stark Marked gene: ACTN4 as ready
Genomic newborn screening: BabyScreen+ v0.7 ACTN4 Zornitza Stark Gene: actn4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.7 ACTN4 Zornitza Stark Phenotypes for gene: ACTN4 were changed from Glomerulosclerosis, focal segmental, 1 to Glomerulosclerosis, focal segmental, 1, MIM#603278
Genomic newborn screening: BabyScreen+ v0.6 ACTN4 Zornitza Stark Classified gene: ACTN4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.6 ACTN4 Zornitza Stark Gene: actn4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.5 ACTN4 Zornitza Stark reviewed gene: ACTN4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomerulosclerosis, focal segmental, 1, MIM#603278; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.5 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Genomic newborn screening: BabyScreen+ v0.5 ACTG2 Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.5 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Genomic newborn screening: BabyScreen+ v0.4 ACTG2 Zornitza Stark Classified gene: ACTG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.4 ACTG2 Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.3 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM#155310, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.3 ACE Zornitza Stark Marked gene: ACE as ready
Genomic newborn screening: BabyScreen+ v0.3 ACE Zornitza Stark Gene: ace has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.3 ACE Zornitza Stark Phenotypes for gene: ACE were changed from Renal tubular dysgenesis to Renal tubular dysgenesis, MIM# 267430
Genomic newborn screening: BabyScreen+ v0.2 ACE Zornitza Stark Publications for gene: ACE were set to
Genomic newborn screening: BabyScreen+ v0.1 ACE Zornitza Stark Classified gene: ACE as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1 ACE Zornitza Stark Gene: ace has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.0 ACE Zornitza Stark reviewed gene: ACE: Rating: RED; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.267 NDNF Elena Savva Phenotypes for gene: NDNF were changed from Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Differences of Sex Development v0.266 NDNF Elena Savva Phenotypes for gene: NDNF were changed from Congenital hypogonadotropic hypogonadism (CHH) to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Differences of Sex Development v0.266 NDNF Elena Savva Classified gene: NDNF as Amber List (moderate evidence)
Differences of Sex Development v0.266 NDNF Elena Savva Gene: ndnf has been classified as Amber List (Moderate Evidence).
Mendeliome v1.335 NDNF Elena Savva Phenotypes for gene: NDNF were changed from Congenital hypogonadotropic hypogonadism (CHH) to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Mendeliome v1.334 NDNF Elena Savva Classified gene: NDNF as Amber List (moderate evidence)
Mendeliome v1.334 NDNF Elena Savva Gene: ndnf has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.265 NDNF Elena Savva reviewed gene: NDNF: Rating: AMBER; Mode of pathogenicity: None; Publications: 31883645; Phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.333 NDNF Elena Savva reviewed gene: NDNF: Rating: AMBER; Mode of pathogenicity: None; Publications: 31883645; Phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic newborn screening: BabyScreen+ v0.0 ZNF674 Zornitza Stark gene: ZNF674 was added
gene: ZNF674 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF674 were set to Mental retardation
Genomic newborn screening: BabyScreen+ v0.0 ZNF252P Zornitza Stark gene: ZNF252P was added
gene: ZNF252P was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZNF252P were set to Hypothyroidism
Genomic newborn screening: BabyScreen+ v0.0 ZFPM2 Zornitza Stark gene: ZFPM2 was added
gene: ZFPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZFPM2 were set to Tetralogy of Fallot
Genomic newborn screening: BabyScreen+ v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
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
Genomic newborn screening: BabyScreen+ v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
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
Genomic newborn screening: BabyScreen+ v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome
Genomic newborn screening: BabyScreen+ v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to Tetra-amelia, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
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 I
Genomic newborn screening: BabyScreen+ v0.0 WDR36 Zornitza Stark gene: WDR36 was added
gene: WDR36 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WDR36 were set to Glaucoma
Genomic newborn screening: BabyScreen+ v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.0 VSX1 Zornitza Stark gene: VSX1 was added
gene: VSX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VSX1 were set to Keratoconus
Genomic newborn screening: BabyScreen+ v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS53 were set to Progressive cerebello-cerebral atrophy
Genomic newborn screening: BabyScreen+ v0.0 VAMP1 Zornitza Stark Source Expert Review Red was added to VAMP1.
Source BabySeq Category C gene was added to VAMP1.
Mode of inheritance for gene VAMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Spastic ataxia for gene: VAMP1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 UTP4 Zornitza Stark gene: UTP4 was added
gene: UTP4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UTP4 were set to North American Indian childhood cirrhosis
Genomic newborn screening: BabyScreen+ v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency
Genomic newborn screening: BabyScreen+ v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency
Genomic newborn screening: BabyScreen+ v0.0 UGT1A5 Zornitza Stark gene: UGT1A5 was added
gene: UGT1A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UGT1A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A5 were set to UDP glucuronosyltransferase deficiency
Genomic newborn screening: BabyScreen+ v0.0 UGT1A4 Zornitza Stark gene: UGT1A4 was added
gene: UGT1A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: UGT1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A4 were set to Crigler-Najjar syndrome
Genomic newborn screening: BabyScreen+ v0.0 UCP2 Zornitza Stark Source Expert Review Red was added to UCP2.
Source BabySeq Category C gene was added to UCP2.
Added phenotypes Hyperinsulinism for gene: UCP2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
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 infantile
Genomic newborn screening: BabyScreen+ v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
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
Genomic newborn screening: BabyScreen+ v0.0 TSPYL1 Zornitza Stark gene: TSPYL1 was added
gene: TSPYL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
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
Genomic newborn screening: BabyScreen+ v0.0 TSPEAR Zornitza Stark gene: TSPEAR was added
gene: TSPEAR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Sensorineural deafness
Genomic newborn screening: BabyScreen+ v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency
Genomic newborn screening: BabyScreen+ v0.0 TRPM2 Zornitza Stark gene: TRPM2 was added
gene: TRPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM2 were set to ALS and Parkinson's disease
Genomic newborn screening: BabyScreen+ v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis type 1A
Genomic newborn screening: BabyScreen+ v0.0 TRHR Zornitza Stark gene: TRHR was added
gene: TRHR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRHR were set to Thyrotropin-releasing hormone resistance, generalized
Genomic newborn screening: BabyScreen+ v0.0 TRH Zornitza Stark gene: TRH was added
gene: TRH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRH were set to Thyrotropin-releasing hormone deficiency
Genomic newborn screening: BabyScreen+ v0.0 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Catecholaminergic polymorphic ventricular tachycardia
Genomic newborn screening: BabyScreen+ v0.0 TPRN Zornitza Stark gene: TPRN was added
gene: TPRN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TPRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPRN were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency
Genomic newborn screening: BabyScreen+ v0.0 TMPO Zornitza Stark gene: TMPO was added
gene: TMPO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMPO were set to Cardiomyopathy, dilated
Genomic newborn screening: BabyScreen+ v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel syndrome
Genomic newborn screening: BabyScreen+ v0.0 TMC8 Zornitza Stark gene: TMC8 was added
gene: TMC8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformi
Genomic newborn screening: BabyScreen+ v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TJP2 were set to Hypercholanemia, familial
Genomic newborn screening: BabyScreen+ v0.0 THBS1 Zornitza Stark gene: THBS1 was added
gene: THBS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THBS1 were set to Pulmonary hypertension
Genomic newborn screening: BabyScreen+ v0.0 THBD Zornitza Stark gene: THBD was added
gene: THBD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THBD were set to Haemolytic uraemic syndrome
Genomic newborn screening: BabyScreen+ v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGIF1 were set to Holoprosencephaly-4
Genomic newborn screening: BabyScreen+ v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia
Genomic newborn screening: BabyScreen+ v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease
Genomic newborn screening: BabyScreen+ v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFR2 were set to Hemochromatosis type 3
Genomic newborn screening: BabyScreen+ v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome
Genomic newborn screening: BabyScreen+ v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2G
Genomic newborn screening: BabyScreen+ v0.0 TBX20 Zornitza Stark gene: TBX20 was added
gene: TBX20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX20 were set to Congenital heart disease
Genomic newborn screening: BabyScreen+ v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome
Genomic newborn screening: BabyScreen+ v0.0 TARDBP Zornitza Stark gene: TARDBP was added
gene: TARDBP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis type 10
Genomic newborn screening: BabyScreen+ v0.0 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic
Genomic newborn screening: BabyScreen+ v0.0 SYT14 Zornitza Stark gene: SYT14 was added
gene: SYT14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYT14 were set to Spinocerebellar ataxia, autosomal recessive 11
Genomic newborn screening: BabyScreen+ v0.0 SYNE4 Zornitza Stark gene: SYNE4 was added
gene: SYNE4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE4 were set to Hearing loss
Genomic newborn screening: BabyScreen+ v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to Amish infantile epilepsy syndrome
Genomic newborn screening: BabyScreen+ v0.0 ST14 Zornitza Stark gene: ST14 was added
gene: ST14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Ichthyosis hypotrichosis syndrome
Genomic newborn screening: BabyScreen+ v0.0 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC
Genomic newborn screening: BabyScreen+ v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII
Genomic newborn screening: BabyScreen+ v0.0 SOX18 Zornitza Stark gene: SOX18 was added
gene: SOX18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SOX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome
Genomic newborn screening: BabyScreen+ v0.0 SOD1 Zornitza Stark gene: SOD1 was added
gene: SOD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis
Genomic newborn screening: BabyScreen+ v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
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
Genomic newborn screening: BabyScreen+ v0.0 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMO were set to Medulloblastoma
Genomic newborn screening: BabyScreen+ v0.0 SMAD9 Zornitza Stark gene: SMAD9 was added
gene: SMAD9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD9 were set to Pulmonary arterial hypertension
Genomic newborn screening: BabyScreen+ v0.0 SMAD6 Zornitza Stark gene: SMAD6 was added
gene: SMAD6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD6 were set to Cardiovascular malformation, congenital
Genomic newborn screening: BabyScreen+ v0.0 SMAD1 Zornitza Stark gene: SMAD1 was added
gene: SMAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
Genomic newborn screening: BabyScreen+ v0.0 SLCO1B3 Zornitza Stark gene: SLCO1B3 was added
gene: SLCO1B3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic
Genomic newborn screening: BabyScreen+ v0.0 SLCO1B1 Zornitza Stark gene: SLCO1B1 was added
gene: SLCO1B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic
Genomic newborn screening: BabyScreen+ v0.0 SLC9A3R1 Zornitza Stark gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2
Genomic newborn screening: BabyScreen+ v0.0 SLC6A2 Zornitza Stark gene: SLC6A2 was added
gene: SLC6A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC6A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC6A2 were set to Orthostatic intolerance
Genomic newborn screening: BabyScreen+ v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
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
Genomic newborn screening: BabyScreen+ v0.0 SLC4A10 Zornitza Stark gene: SLC4A10 was added
gene: SLC4A10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC4A10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC4A10 were set to Epilepsy & mental retardation
Genomic newborn screening: BabyScreen+ v0.0 SLC41A1 Zornitza Stark gene: SLC41A1 was added
gene: SLC41A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC41A1 were set to 23661805
Phenotypes for gene: SLC41A1 were set to Nephronophthisis-like nephropathy 2, MIM# 619468
Genomic newborn screening: BabyScreen+ v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation 2c
Genomic newborn screening: BabyScreen+ v0.0 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A1 were set to CDG syndrome type IIf
Genomic newborn screening: BabyScreen+ v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia, autosomal dominant; Congenital cataracts, hearing loss and low serum copper and ceruloplasmin
Genomic newborn screening: BabyScreen+ v0.0 SLC27A5 Zornitza Stark gene: SLC27A5 was added
gene: SLC27A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A5 were set to Bile acid amidation defect
Genomic newborn screening: BabyScreen+ v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy
Genomic newborn screening: BabyScreen+ v0.0 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral
Genomic newborn screening: BabyScreen+ v0.0 SLC16A12 Zornitza Stark gene: SLC16A12 was added
gene: SLC16A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A12 were set to Cataract, juvenile with microcornea and renal glucosuria
Genomic newborn screening: BabyScreen+ v0.0 SLC16A1 Zornitza Stark Source Expert Review Red was added to SLC16A1.
Source BabySeq Category C gene was added to SLC16A1.
Added phenotypes Monocarboxylate transporter 1 deficiency for gene: SLC16A1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC12A5 were set to Febrile seizures
Genomic newborn screening: BabyScreen+ v0.0 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic
Genomic newborn screening: BabyScreen+ v0.0 SIX5 Zornitza Stark gene: SIX5 was added
gene: SIX5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome
Genomic newborn screening: BabyScreen+ v0.0 SIX2 Zornitza Stark gene: SIX2 was added
gene: SIX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX2 were set to Renal hypodysplasia
Genomic newborn screening: BabyScreen+ v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair
Genomic newborn screening: BabyScreen+ v0.0 SH3BP2 Zornitza Stark gene: SH3BP2 was added
gene: SH3BP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism
Genomic newborn screening: BabyScreen+ v0.0 SFTPA2 Zornitza Stark gene: SFTPA2 was added
gene: SFTPA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic
Genomic newborn screening: BabyScreen+ v0.0 SERPIND1 Zornitza Stark gene: SERPIND1 was added
gene: SERPIND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPIND1 were set to Heparin cofactor 2 deficiency
Genomic newborn screening: BabyScreen+ v0.0 SERPINC1 Zornitza Stark gene: SERPINC1 was added
gene: SERPINC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SERPINC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency
Genomic newborn screening: BabyScreen+ v0.0 SERPINB6 Zornitza Stark gene: SERPINB6 was added
gene: SERPINB6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SERPINB6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINB6 were set to Deafness, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 SEMA3A Zornitza Stark gene: SEMA3A was added
gene: SEMA3A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SEMA3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEMA3A were set to Kallmann syndrome 1
Genomic newborn screening: BabyScreen+ v0.0 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC63 were set to Polycystic liver disease
Genomic newborn screening: BabyScreen+ v0.0 SCP2 Zornitza Stark gene: SCP2 was added
gene: SCP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCP2 were set to Leukoencephalopathy - dystonia - motor neuropathy
Genomic newborn screening: BabyScreen+ v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Hepatic failure, early onset, and neurologic disorder
Genomic newborn screening: BabyScreen+ v0.0 SCNN1G Zornitza Stark Source Expert Review Red was added to SCNN1G.
Source BabySeq Category C gene was added to SCNN1G.
Added phenotypes Pseudohypoaldosteronism for gene: SCNN1G
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 SCN4B Zornitza Stark gene: SCN4B was added
gene: SCN4B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN4B were set to Long QT syndrome
Genomic newborn screening: BabyScreen+ v0.0 SCN4A Zornitza Stark Source Expert Review Red was added to SCN4A.
Source BabySeq Category A gene was added to SCN4A.
Source BabySeq Category C gene was added to SCN4A.
Mode of inheritance for gene SCN4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2 for gene: SCN4A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.0 SCN3B Zornitza Stark gene: SCN3B was added
gene: SCN3B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN3B were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 SCN2B Zornitza Stark gene: SCN2B was added
gene: SCN2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN2B were set to Atrial fibrillation
Genomic newborn screening: BabyScreen+ v0.0 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1B were set to Brugada syndrome
Genomic newborn screening: BabyScreen+ v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis