PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Mendeliome v0.6186 EYA3 Zornitza Stark Marked gene: EYA3 as ready
Mendeliome v0.6186 EYA3 Zornitza Stark Gene: eya3 has been classified as Red List (Low Evidence).
Mendeliome v0.6186 EYA3 Zornitza Stark Classified gene: EYA3 as Red List (low evidence)
Mendeliome v0.6186 EYA3 Zornitza Stark Gene: eya3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Marked gene: CLRN2 as ready
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Classified gene: CLRN2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.48 CLRN2 Zornitza Stark gene: CLRN2 was added
gene: CLRN2 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLRN2 were set to 33496845
Phenotypes for gene: CLRN2 were set to Non-syndromic hearing loss
Review for gene: CLRN2 was set to AMBER
Added comment: Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon. Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function. Rated Amber due to supporting functional studies in mice.
Sources: Literature
Mendeliome v0.6185 CLRN2 Zornitza Stark Classified gene: CLRN2 as Amber List (moderate evidence)
Mendeliome v0.6185 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3426 HIRA Paul De Fazio gene: HIRA was added
gene: HIRA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013; 28135719; 25363760
Phenotypes for gene: HIRA were set to Neurodevelopmental disorder
Review for gene: HIRA was set to GREEN
gene: HIRA was marked as current diagnostic
Added comment: Two unrelated patients with different de novo loss of function variants identified in PMID 33417013:

Individual 1: intragenic deletion, phenotype included psychomotor retardation, ID, growth retardation, microcephaly, and facial features reminiscent of 22q deletion syndrome.
Individual 2: canonical splice variant, phenotype mostly confined to ASD

Another two de novo variants were identified in the literature by the authors of that paper, one stop-gain (DDD study, PMID 28135719) and one missense (large autism cohort, PMID 25363760).

PMID 33417013 also showed that HIRA knockdown in mice results in neurodevelopmental abnormalities.

Rated Green due to 4 unrelated individuals (albeit 2 in large cohort studies) and a mouse model. NB: HIRA is within the common 22q deletion region.
Sources: Literature
Mendeliome v0.6184 HIRA Paul De Fazio gene: HIRA was added
gene: HIRA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013; 28135719; 25363760
Phenotypes for gene: HIRA were set to Neurodevelopmental disorder
Review for gene: HIRA was set to GREEN
gene: HIRA was marked as current diagnostic
Added comment: Two unrelated patients with different de novo loss of function variants identified in PMID 33417013:

Individual 1: intragenic deletion, phenotype included psychomotor retardation, ID, growth retardation, microcephaly, and facial features reminiscent of 22q deletion syndrome.
Individual 2: canonical splice variant, phenotype mostly confined to ASD

Another two de novo variants were identified in the literature by the authors of that paper, one stop-gain (DDD study, PMID 28135719) and one missense (large autism cohort, PMID 25363760).

PMID 33417013 also showed that HIRA knockdown in mice results in neurodevelopmental abnormalities.

Rated Green due to 4 unrelated individuals (albeit 2 in large cohort studies) and a mouse model. NB: HIRA is within the common 22q deletion region.
Sources: Literature
Mendeliome v0.6184 POLR3B Zornitza Stark changed review comment from: Ataxia is a presenting feature.; to: Bi-allelic variants are associated with leukodystrophy.
Mendeliome v0.6184 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Mendeliome v0.6184 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Mendeliome v0.6184 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381
Mendeliome v0.6183 POLR3B Zornitza Stark Publications for gene: POLR3B were set to
Mendeliome v0.6182 POLR3B Zornitza Stark Mode of inheritance for gene: POLR3B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic variants in this gene cause a leukodystrophy.
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 to Ataxia, spasticity, and demyelinating neuropathy
Hereditary Neuropathy v0.103 POLR3B Zornitza Stark Mode of inheritance for gene: POLR3B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.102 POLR3B Zornitza Stark Classified gene: POLR3B as Green List (high evidence)
Hereditary Neuropathy v0.102 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Mendeliome v0.6181 CFAP47 Zornitza Stark edited their review of gene: CFAP47: Changed rating: GREEN
Mendeliome v0.6181 CFAP47 Zornitza Stark Marked gene: CFAP47 as ready
Mendeliome v0.6181 CFAP47 Zornitza Stark Added comment: Comment when marking as ready: 3-4 unrelated individuals and animal model.
Mendeliome v0.6181 CFAP47 Zornitza Stark Gene: cfap47 has been classified as Green List (High Evidence).
Mendeliome v0.6181 CFAP47 Zornitza Stark Classified gene: CFAP47 as Green List (high evidence)
Mendeliome v0.6181 CFAP47 Zornitza Stark Gene: cfap47 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Marked gene: C14orf39 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Classified gene: C14orf39 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6180 C14orf39 Zornitza Stark Marked gene: C14orf39 as ready
Mendeliome v0.6180 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Green List (High Evidence).
Mendeliome v0.6180 C14orf39 Zornitza Stark Classified gene: C14orf39 as Green List (high evidence)
Mendeliome v0.6180 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Green List (High Evidence).
Mendeliome v0.6179 EYA3 Paul De Fazio gene: EYA3 was added
gene: EYA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EYA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EYA3 were set to 33475861
Phenotypes for gene: EYA3 were set to Oculo-auriculo-vertebral spectrum (OAVS)
Review for gene: EYA3 was set to RED
gene: EYA3 was marked as current diagnostic
Added comment: 3 individuals with OAVS from two unrelated families with the same missense variant, p.(Asn358Ser). Variant has 20 heterozygotes in gnomAD. Unaffected carriers in both families were also identified - unknown if incomplete penetrance or nonsegregation.

Functional studies indicate the variant increases protein half life, and gene knockdown in zebrafish had an effect on craniofacial development.

Rated Red due to both families sharing the variant and uncertainty about incomplete penetrance versus nonsegregation.
Sources: Literature
Ataxia v0.272 SATB1 Zornitza Stark Marked gene: SATB1 as ready
Ataxia v0.272 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Ataxia v0.272 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia
Ataxia v0.271 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Ataxia v0.271 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1016 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression
Genetic Epilepsy v0.1016 SATB1 Zornitza Stark Marked gene: SATB1 as ready
Genetic Epilepsy v0.1016 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1016 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression
Genetic Epilepsy v0.1015 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Genetic Epilepsy v0.1015 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Regression v0.234 SATB1 Zornitza Stark Marked gene: SATB1 as ready
Regression v0.234 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Regression v0.234 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; regression
Regression v0.233 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Regression v0.233 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Cataract v0.262 NSUN2 Zornitza Stark Phenotypes for gene: NSUN2 were changed from Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features to Mental retardation, autosomal recessive 5, MIM# 611091; Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features
Cataract v0.261 NSUN2 Zornitza Stark Publications for gene: NSUN2 were set to
Cataract v0.260 NSUN2 Zornitza Stark reviewed gene: NSUN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.48 NAA15 Zornitza Stark Marked gene: NAA15 as ready
Cardiomyopathy_Paediatric v0.48 NAA15 Zornitza Stark Gene: naa15 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.48 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from Intellectual disability; cardiomyopathy to Mental retardation, autosomal dominant 50, MIM# 617787; cardiomyopathy
Cardiomyopathy_Paediatric v0.47 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from to Intellectual disability; cardiomyopathy
Cardiomyopathy_Paediatric v0.46 NAA15 Zornitza Stark Publications for gene: NAA15 were set to
Cardiomyopathy_Paediatric v0.45 NAA15 Zornitza Stark Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.44 NAA15 Zornitza Stark reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6179 ENO1 Zornitza Stark Marked gene: ENO1 as ready
Mendeliome v0.6179 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Mendeliome v0.6179 ENO1 Zornitza Stark Classified gene: ENO1 as Red List (low evidence)
Mendeliome v0.6179 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Ataxia v0.270 KCNN2 Zornitza Stark Marked gene: KCNN2 as ready
Ataxia v0.270 KCNN2 Zornitza Stark Gene: kcnn2 has been classified as Green List (High Evidence).
Ataxia v0.270 KCNN2 Zornitza Stark Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental disorder; Ataxia
Ataxia v0.269 KCNN2 Zornitza Stark Classified gene: KCNN2 as Green List (high evidence)
Ataxia v0.269 KCNN2 Zornitza Stark Gene: kcnn2 has been classified as Green List (High Evidence).
Callosome v0.249 UBE3B Zornitza Stark Phenotypes for gene: UBE3B were changed from Blepharophimosis; intellectual disability to Kaufman oculocerebrofacial syndrome, MIM# 244450; Blepharophimosis; intellectual disability
Callosome v0.248 UBE3B Zornitza Stark reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.52 FST Zornitza Stark Marked gene: FST as ready
Clefting disorders v0.52 FST Zornitza Stark Gene: fst has been classified as Red List (Low Evidence).
Clefting disorders v0.52 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Clefting disorders v0.52 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Clefting disorders v0.52 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from Cleft palate to Bamforth-Lazarus syndrome, OMIM #241850
Clefting disorders v0.51 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to
Clefting disorders v0.50 FOXE1 Zornitza Stark Mode of inheritance for gene: FOXE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.49 GDF11 Zornitza Stark Classified gene: GDF11 as Amber List (moderate evidence)
Clefting disorders v0.49 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.48 GDF11 Zornitza Stark reviewed gene: GDF11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Clefting disorders v0.48 GDF11 Zornitza Stark Marked gene: GDF11 as ready
Clefting disorders v0.48 GDF11 Zornitza Stark Gene: gdf11 has been classified as Red List (Low Evidence).
Clefting disorders v0.48 GNAI3 Zornitza Stark Marked gene: GNAI3 as ready
Clefting disorders v0.48 GNAI3 Zornitza Stark Gene: gnai3 has been classified as Red List (Low Evidence).
Clefting disorders v0.48 GNAI3 Zornitza Stark Phenotypes for gene: GNAI3 were changed from Cleft palate to Auriculocondylar syndrome 1, OMIM #602483
Clefting disorders v0.47 GNAI3 Zornitza Stark Publications for gene: GNAI3 were set to
Clefting disorders v0.46 GNAI3 Zornitza Stark Mode of inheritance for gene: GNAI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.45 HOXA2 Zornitza Stark Marked gene: HOXA2 as ready
Clefting disorders v0.45 HOXA2 Zornitza Stark Gene: hoxa2 has been classified as Red List (Low Evidence).
Clefting disorders v0.45 HOXA2 Zornitza Stark Mode of inheritance for gene: HOXA2 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
Clefting disorders v0.44 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Clefting disorders v0.44 KAT5 Zornitza Stark Gene: kat5 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.44 LRP6 Zornitza Stark Marked gene: LRP6 as ready
Clefting disorders v0.44 LRP6 Zornitza Stark Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.44 LRRC32 Zornitza Stark Marked gene: LRRC32 as ready
Clefting disorders v0.44 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.44 MED13L Zornitza Stark Marked gene: MED13L as ready
Clefting disorders v0.44 MED13L Zornitza Stark Gene: med13l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6178 HEY2 Zornitza Stark gene: HEY2 was added
gene: HEY2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.17 HEY2 Zornitza Stark Marked gene: HEY2 as ready
Aortopathy_Connective Tissue Disorders v1.17 HEY2 Zornitza Stark Gene: hey2 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.87 HEY2 Zornitza Stark Marked gene: HEY2 as ready
Congenital Heart Defect v0.87 HEY2 Zornitza Stark Gene: hey2 has been classified as Red List (Low Evidence).
Mendeliome v0.6177 FGF9 Zornitza Stark edited their review of gene: FGF9: Changed phenotypes: Multiple synostoses syndrome 3, OMIM # 612961, Craniosynostosis
Mendeliome v0.6177 FGF9 Zornitza Stark Marked gene: FGF9 as ready
Mendeliome v0.6177 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Mendeliome v0.6177 FGF9 Zornitza Stark Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3, OMIM # 612961; Craniosynostosis
Mendeliome v0.6176 FGF9 Zornitza Stark Publications for gene: FGF9 were set to
Mendeliome v0.6175 FGF9 Zornitza Stark Mode of inheritance for gene: FGF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6174 FGF9 Zornitza Stark reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140402, 28730625, 19589401, 33174625, 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.80 FGF9 Zornitza Stark Marked gene: FGF9 as ready
Skeletal dysplasia v0.80 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.80 FGF9 Zornitza Stark Phenotypes for gene: FGF9 were changed from ?Multiple synostoses syndrome type 3 612961 to Multiple synostoses syndrome type 3 612961
Skeletal dysplasia v0.79 FGF9 Zornitza Stark Publications for gene: FGF9 were set to 19589401
Mendeliome v0.6174 OTUD5 Zornitza Stark Marked gene: OTUD5 as ready
Mendeliome v0.6174 OTUD5 Zornitza Stark Gene: otud5 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Marked gene: BTD as ready
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Gene: btd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Classified gene: BTD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Gene: btd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.99 BTD Bryony Thompson gene: BTD was added
gene: BTD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 7550325
Phenotypes for gene: BTD were set to Biotinidase deficiency MIM#253260; disorder of biotin metabolism
Review for gene: BTD was set to GREEN
gene: BTD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Deficiency causes an inborn error of biotin metabolism.
Sources: NHS GMS
Mendeliome v0.6174 OTUD5 Zornitza Stark gene: OTUD5 was added
gene: OTUD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33131077
Phenotypes for gene: OTUD5 were set to X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality
Review for gene: OTUD5 was set to RED
Added comment: 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. No functional studies.
Sources: Literature
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Marked gene: BCKDK as ready
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Classified gene: BCKDK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.97 BCKDK Bryony Thompson gene: BCKDK was added
gene: BCKDK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDK were set to 22956686; 24449431
Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; disorder of branched-chain amino acid metabolism
Review for gene: BCKDK was set to GREEN
Added comment: 5 unrelated families with homozygous variants and supporting functional assays on patient-derived cells.
Sources: NHS GMS
Genetic Epilepsy v0.1014 CCDC186 Zornitza Stark Marked gene: CCDC186 as ready
Genetic Epilepsy v0.1014 CCDC186 Zornitza Stark Gene: ccdc186 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3426 OTUD5 Zornitza Stark Marked gene: OTUD5 as ready
Intellectual disability syndromic and non-syndromic v0.3426 OTUD5 Zornitza Stark Gene: otud5 has been classified as Red List (Low Evidence).
Mendeliome v0.6173 BCAT2 Bryony Thompson Marked gene: BCAT2 as ready
Mendeliome v0.6173 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Marked gene: BCAT2 as ready
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Mendeliome v0.6173 BCAT2 Bryony Thompson Classified gene: BCAT2 as Green List (high evidence)
Mendeliome v0.6173 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Mendeliome v0.6172 BCAT2 Bryony Thompson changed review comment from: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS; to: 6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Mendeliome v0.6172 BCAT2 Bryony Thompson edited their review of gene: BCAT2: Changed rating: GREEN; Changed publications: 14755340, 25653144, 31177572
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Classified gene: BCAT2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson changed review comment from: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS; to: 6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson edited their review of gene: BCAT2: Changed publications: 14755340, 25653144, 31177572
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson edited their review of gene: BCAT2: Changed rating: GREEN; Changed publications: 31177572
Mendeliome v0.6172 BCAT2 Bryony Thompson gene: BCAT2 was added
gene: BCAT2 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAT2 were set to 14755340; 25653144
Phenotypes for gene: BCAT2 were set to Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism
Review for gene: BCAT2 was set to AMBER
Added comment: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson Classified gene: BCAT2 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.94 BCAT2 Bryony Thompson gene: BCAT2 was added
gene: BCAT2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAT2 were set to 14755340; 25653144
Phenotypes for gene: BCAT2 were set to Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism
Review for gene: BCAT2 was set to AMBER
Added comment: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Marked gene: BAAT as ready
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Gene: baat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Classified gene: BAAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Gene: baat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.92 BAAT Bryony Thompson gene: BAAT was added
gene: BAAT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BAAT were set to 12704386; 23415802
Phenotypes for gene: BAAT were set to Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism
Review for gene: BAAT was set to GREEN
gene: BAAT was marked as current diagnostic
Added comment: PMID: 12704386 - A homozygous missense (M76V) was identified 5 cases from 3 families that were all of Lancaster County Old Order Amish descent. The variant was associated with lower levels of conjugation in a dose-dependent fashion, and homozygote individuals had no amino acid–conjugated bile acids.
PMID: 23415802 - 7 cases with homozygous variants from 4 unrelated families with features of a genetic defect in bile acid conjugation.
Sources: NHS GMS
Mendeliome v0.6171 CLRN2 Paul De Fazio gene: CLRN2 was added
gene: CLRN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLRN2 were set to 33496845
Phenotypes for gene: CLRN2 were set to Non-syndromic hearing loss
Review for gene: CLRN2 was set to AMBER
gene: CLRN2 was marked as current diagnostic
Added comment: Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon.

Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function.

Rated Amber due to supporting functional studies in mice.
Sources: Literature
Mendeliome v0.6171 POLR3B Elena Savva reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33417887, 22036171, 22036172; Phenotypes: Ataxia, spasticity, and demyelinating neuropathy, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.101 POLR3B Elena Savva gene: POLR3B was added
gene: POLR3B was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: POLR3B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLR3B were set to PMID: 33417887
Phenotypes for gene: POLR3B were set to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381
Review for gene: POLR3B was set to GREEN
Added comment: PMID: 33417887: Six unrelated individuals with de novo missense variants.
Patients had ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy.
Protein modeling and proteomic analysis shows variants caused aberrant association of individual enzyme subunits rather than affecting overall enzyme assembly or stability.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3426 METAP1 Sebastian Lunke Marked gene: METAP1 as ready
Intellectual disability syndromic and non-syndromic v0.3426 METAP1 Sebastian Lunke Gene: metap1 has been classified as Red List (Low Evidence).
Mendeliome v0.6171 CFAP47 Hazel Phillimore gene: CFAP47 was added
gene: CFAP47 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP47 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: CFAP47 were set to PMID: 33472045
Phenotypes for gene: CFAP47 were set to asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)
Review for gene: CFAP47 was set to AMBER
Added comment: CFAP47 also known as CXorf22. 3 different missense variants in 3 unrelated Chinese individuals with asthenoteratozoospermia associated with morphological abnormalities of the flagella (MMAF). Immunoblotting and immunofluorescence showed reduced levels of CFAP47 in spermatozoa in all 3 men. A separate asthenoteratozoospermia cohort showed 1 individual with CNV including whole gene deletion of CFAP47.
Mouse model (with frameshift variants generated (via CRISPR-Cas9 technology) were sterile and presented with reduced sperm motility and abnormal flagellar morphology.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3426 METAP1 Sebastian Lunke Classified gene: METAP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3426 METAP1 Sebastian Lunke Gene: metap1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 C14orf39 Elena Savva gene: C14orf39 was added
gene: C14orf39 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf39 were set to PMID: 33508233; 27796301
Phenotypes for gene: C14orf39 were set to Premature ovarian insufficiency
Review for gene: C14orf39 was set to AMBER
Added comment: PMID: 33508233
- 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency) with a homozygous PTC

PMID: 27796301
- Mouse K/O had ovarian failure
Sources: Literature
Mendeliome v0.6171 C14orf39 Elena Savva gene: C14orf39 was added
gene: C14orf39 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf39 were set to PMID: 33508233; 27796301
Phenotypes for gene: C14orf39 were set to Azoospermia; Premature ovarian insufficiency
Review for gene: C14orf39 was set to GREEN
Added comment: PMID: 33508233
- 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency)
- 2 unrelated Chinese males with azoospermia
All patients had either homozygous PTCs or splice

PMID: 27796301
Mouse K/O had azoospermia and ovarian failure
Sources: Literature
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Marked gene: ATP7A as ready
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Classified gene: ATP7A as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.90 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 7842019; 8981948
Phenotypes for gene: ATP7A were set to Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; disorder of copper matabolism
Review for gene: ATP7A was set to GREEN
gene: ATP7A was marked as current diagnostic
Added comment: Well-established gene-disease association. Menkes disease and Occipital horn syndrome are caused by an inborn error of copper metabolism.
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.3425 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental disorders to Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Ataxia v0.268 SATB1 Elena Savva gene: SATB1 was added
gene: SATB1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to PMID: 33513338; 33057194
Phenotypes for gene: SATB1 were set to Neurodevelopmental disorders
Mode of pathogenicity for gene: SATB1 was set to Other
Review for gene: SATB1 was set to GREEN
Added comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.
Missense variants - more severe, profound ID
NMD PTCs - milder disease

Functional studies show missense variants have a STRONGER binding to downstream targets
Sources: Literature
Genetic Epilepsy v0.1014 SATB1 Elena Savva gene: SATB1 was added
gene: SATB1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to PMID: 33513338; 33057194
Phenotypes for gene: SATB1 were set to Neurodevelopmental disorders
Mode of pathogenicity for gene: SATB1 was set to Other
Review for gene: SATB1 was set to GREEN
Added comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.
Missense variants - more severe, profound ID
NMD PTCs - milder disease

Functional studies show missense variants have a STRONGER binding to downstream targets
Sources: Literature
Regression v0.232 SATB1 Elena Savva gene: SATB1 was added
gene: SATB1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to PMID: 33513338; 33057194
Phenotypes for gene: SATB1 were set to Neurodevelopmental disorders
Mode of pathogenicity for gene: SATB1 was set to Other
Review for gene: SATB1 was set to GREEN
Added comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.
Missense variants - more severe, profound ID
NMD PTCs - milder disease

Functional studies show missense variants have a STRONGER binding to downstream targets
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3424 KCNN2 Sebastian Lunke Marked gene: KCNN2 as ready
Intellectual disability syndromic and non-syndromic v0.3424 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3424 KCNN2 Sebastian Lunke Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental movement disorders; Developmental Delay; Seizures
Intellectual disability syndromic and non-syndromic v0.3423 KCNN2 Sebastian Lunke Classified gene: KCNN2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3423 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Ataxia v0.268 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3422 SATB1 Zornitza Stark Publications for gene: SATB1 were set to 33057194
Intellectual disability syndromic and non-syndromic v0.3421 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3421 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Marked gene: ATIC as ready
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Gene: atic has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Classified gene: ATIC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Gene: atic has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.88 ATIC Bryony Thompson gene: ATIC was added
gene: ATIC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATIC were set to 15114530; 32557644
Phenotypes for gene: ATIC were set to AICA-ribosiduria due to ATIC deficiency MIM#608688; disorders of purine metabolism
Review for gene: ATIC was set to GREEN
Added comment: 4 cases from 3 independent families. Deficiency causes an inborn error of purine metabolism.
Sources: NHS GMS
Mendeliome v0.6171 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental disorders to Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Mendeliome v0.6170 KCNN2 Sebastian Lunke Marked gene: KCNN2 as ready
Mendeliome v0.6170 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Mendeliome v0.6170 KCNN2 Sebastian Lunke Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental movement disorders; Developmental Delay; Seizures
Mendeliome v0.6169 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Mendeliome v0.6169 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Mendeliome v0.6168 KCNN2 Sebastian Lunke Classified gene: KCNN2 as Green List (high evidence)
Mendeliome v0.6168 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1014 KCNN2 Sebastian Lunke Marked gene: KCNN2 as ready
Genetic Epilepsy v0.1014 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Cataract v0.260 NSUN2 Tiong Tan Marked gene: NSUN2 as ready
Cataract v0.260 NSUN2 Tiong Tan Gene: nsun2 has been classified as Red List (Low Evidence).
Cataract v0.260 NSUN2 Tiong Tan edited their review of gene: NSUN2: Changed publications: 33084202
Genetic Epilepsy v0.1014 KCNN2 Sebastian Lunke Phenotypes for gene: KCNN2 were changed from 33242881 to Neurological Disorder; Developmental Delay; Seizures
Cataract v0.260 NSUN2 Tiong Tan gene: NSUN2 was added
gene: NSUN2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features
Penetrance for gene: NSUN2 were set to Complete
Review for gene: NSUN2 was set to AMBER
Added comment: Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3420 METAP1 Paul De Fazio gene: METAP1 was added
gene: METAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: METAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METAP1 were set to 32764695
Phenotypes for gene: METAP1 were set to Intellectual disability, aggression, neurodevelopmental delay
Review for gene: METAP1 was set to RED
gene: METAP1 was marked as current diagnostic
Added comment: Biallelic nonsense (NMD-predicted) variant identified in 4 sibs in a consanguineous family with dev delay. One sib had bilateral clinodactyly of her toes and her left 3rd finger, other sibs were not dysmorphic. Rated red due to single consanguineous family.
Sources: Literature
Genetic Epilepsy v0.1013 KCNN2 Sebastian Lunke Classified gene: KCNN2 as Green List (high evidence)
Genetic Epilepsy v0.1013 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Mendeliome v0.6167 ENO1 Kristin Rigbye gene: ENO1 was added
gene: ENO1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENO1 were set to 32488097
Phenotypes for gene: ENO1 were set to Polymicrogyria
Review for gene: ENO1 was set to RED
Added comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2.
Sources: Literature
Mendeliome v0.6167 METAP1 Zornitza Stark Marked gene: METAP1 as ready
Mendeliome v0.6167 METAP1 Zornitza Stark Gene: metap1 has been classified as Red List (Low Evidence).
Mendeliome v0.6167 METAP1 Zornitza Stark Classified gene: METAP1 as Red List (low evidence)
Mendeliome v0.6167 METAP1 Zornitza Stark Gene: metap1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3420 SATB1 Elena Savva reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33513338, 33057194; Phenotypes: Neurodevelopmental disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6166 SATB1 Elena Savva reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33513338; Phenotypes: Neurodevelopmental disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.1012 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to 33242881
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Marked gene: ENO1 as ready
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Classified gene: ENO1 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3420 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Mendeliome v0.6166 METAP1 Paul De Fazio gene: METAP1 was added
gene: METAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: METAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METAP1 were set to PMID: 32764695
Phenotypes for gene: METAP1 were set to Intellectual disability, aggression, neurodevelopmental delay
Review for gene: METAP1 was set to RED
gene: METAP1 was marked as current diagnostic
Added comment: Biallelic nonsense (NMD-predicted) variant identified in 4 sibs in a consanguineous family with dev delay. One sib had bilateral clinodactyly of her toes and her left 3rd finger, other sibs were not dysmorphic. Rated red due to single consanguineous family.
Sources: Literature
Mendeliome v0.6166 MYADML2 Zornitza Stark Marked gene: MYADML2 as ready
Mendeliome v0.6166 MYADML2 Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence).
Mendeliome v0.6166 MYADML2 Zornitza Stark Classified gene: MYADML2 as Red List (low evidence)
Mendeliome v0.6166 MYADML2 Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence).
Mendeliome v0.6165 MYADML2 Zornitza Stark Tag SV/CNV tag was added to gene: MYADML2.
Mendeliome v0.6165 CCDC186 Zornitza Stark Marked gene: CCDC186 as ready
Mendeliome v0.6165 CCDC186 Zornitza Stark Gene: ccdc186 has been classified as Red List (Low Evidence).
Mendeliome v0.6165 CCDC186 Zornitza Stark gene: CCDC186 was added
gene: CCDC186 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146
Phenotypes for gene: CCDC186 were set to Epileptic encephalopathy
Review for gene: CCDC186 was set to RED
Added comment: One individual reported with bi-allelic truncating variant and EE.
Sources: Literature
Cardiomyopathy_Paediatric v0.44 NAA15 Tiong Tan reviewed gene: NAA15: Rating: RED; Mode of pathogenicity: None; Publications: 33103328; Phenotypes: ID, cardiac; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1012 CCDC186 Zornitza Stark gene: CCDC186 was added
gene: CCDC186 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146
Phenotypes for gene: CCDC186 were set to Epileptic encephalopathy
Review for gene: CCDC186 was set to RED
Added comment: One individual reported with bi-allelic truncating variant and EE.
Sources: Literature
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Classified gene: PDSS1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.46 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 33285023
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Review for gene: PDSS1 was set to AMBER
Added comment: Two families reported where optic atrophy and deafness are part of the phenotype.
Sources: Literature
Optic Atrophy v0.123 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Optic Atrophy v0.123 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.123 PDSS1 Zornitza Stark Classified gene: PDSS1 as Amber List (moderate evidence)
Optic Atrophy v0.123 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.122 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 33285023
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Review for gene: PDSS1 was set to AMBER
Added comment: Two families reported where optic atrophy and deafness are part of the phenotype.
Sources: Literature
Early-onset Parkinson disease v0.98 NR4A2 Sebastian Lunke Marked gene: NR4A2 as ready
Early-onset Parkinson disease v0.98 NR4A2 Sebastian Lunke Gene: nr4a2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.98 NR4A2 Sebastian Lunke Classified gene: NR4A2 as Green List (high evidence)
Early-onset Parkinson disease v0.98 NR4A2 Sebastian Lunke Gene: nr4a2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.97 NR4A2 Sebastian Lunke gene: NR4A2 was added
gene: NR4A2 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR4A2 were set to 31922365
Phenotypes for gene: NR4A2 were set to Intellectual Disability; Dystonia and Early-onset Parkinson
Review for gene: NR4A2 was set to GREEN
Added comment: Three patients described to expand the known phenotype of mild ID with early adulthood onset Dystonia and Early-onset Parkinson. Three patients described in two publications, two with frameshift and one with missense, all de-novo.

https://doi.org/10.1212/NXG.0000000000000543
https://doi.org/10.1002/mds.27982
Sources: Literature
Polymicrogyria and Schizencephaly v0.156 ENO1 Kristin Rigbye gene: ENO1 was added
gene: ENO1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENO1 were set to 32488097
Phenotypes for gene: ENO1 were set to Polymicrogyria
Review for gene: ENO1 was set to RED
Added comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2.
Sources: Literature
Callosome v0.248 UBE3B Tiong Tan Classified gene: UBE3B as Green List (high evidence)
Callosome v0.248 UBE3B Tiong Tan Added comment: Comment on list classification: Reviewed
Callosome v0.248 UBE3B Tiong Tan Gene: ube3b has been classified as Green List (High Evidence).
Callosome v0.248 UBE3B Tiong Tan Classified gene: UBE3B as Green List (high evidence)
Callosome v0.248 UBE3B Tiong Tan Gene: ube3b has been classified as Green List (High Evidence).
Callosome v0.247 UBE3B Tiong Tan Classified gene: UBE3B as Green List (high evidence)
Callosome v0.247 UBE3B Tiong Tan Gene: ube3b has been classified as Green List (High Evidence).
Callosome v0.246 UBE3B Tiong Tan Marked gene: UBE3B as ready
Callosome v0.246 UBE3B Tiong Tan Gene: ube3b has been classified as Red List (Low Evidence).
Mendeliome v0.6164 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Mendeliome v0.6164 MYADML2 Paul De Fazio gene: MYADML2 was added
gene: MYADML2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYADML2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYADML2 were set to 32778762
Phenotypes for gene: MYADML2 were set to Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles
Review for gene: MYADML2 was set to RED
gene: MYADML2 was marked as current diagnostic
Added comment: 5 sibs from a consanguineous family identified to have biallelic deletion encompassing part of the PYCR1 gene and the coding region of the MYADML2 gene.

According to the authors: "All five affected sibs had the most common features of ARCL (autosomal recessive cutis laxa) but not many of the less common ones. We attributed the anomalies not typical for ARCL to MYADML2 deficit, because no other genetic defect possibly a candidate to underlie the skeletal phenotype was found."

Phenotype may still be explained by the PYCR1 deletion alone.
Sources: Literature
Callosome v0.246 UBE3B Tiong Tan gene: UBE3B was added
gene: UBE3B was added to Callosome. Sources: Literature
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3B were set to 32949109
Phenotypes for gene: UBE3B were set to Blepharophimosis; intellectual disability
Penetrance for gene: UBE3B were set to Complete
Added comment: 7 patients with UBE3B syndrome and callosal anomalies - hypoplasia and agenesis
Sources: Literature
Dystonia and Chorea v0.168 NR4A2 Sebastian Lunke Marked gene: NR4A2 as ready
Dystonia and Chorea v0.168 NR4A2 Sebastian Lunke Gene: nr4a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.168 NR4A2 Sebastian Lunke Classified gene: NR4A2 as Green List (high evidence)
Dystonia and Chorea v0.168 NR4A2 Sebastian Lunke Gene: nr4a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.167 NR4A2 Sebastian Lunke gene: NR4A2 was added
gene: NR4A2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR4A2 were set to 31922365
Phenotypes for gene: NR4A2 were set to Intellectual Disability; Dystonia and Early-onset Parkinson
Review for gene: NR4A2 was set to GREEN
Added comment: Three patients described to expand the known phenotype of mild ID with early adulthood onset Dystonia and Early-onset Parkinson. Three patients described in two publications, two with frameshift and one with missense, all de-novo.

https://doi.org/10.1212/NXG.0000000000000543
https://doi.org/10.1002/mds.27982
Sources: Literature
Clefting disorders v0.44 FST Chirag Patel gene: FST was added
gene: FST was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: FST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FST were set to PubMed: 31215115
Phenotypes for gene: FST were set to orofacial clefting
Review for gene: FST was set to RED
Added comment: In a cohort of 72 families with orofacial clefting, Cox et al. (2019) performed exome sequencing and identified a father and 2 daughters (family 22) with cleft lip and palate who were heterozygous for missense variant (C56Y) in FST. A highly conserved residue within the 63-residue N-terminal domain. The variant was not found in the unaffected paternal grandmother or in the gnomAD database. Classed as a VUS. Functional analysis in transfected HEK293T cells, using a stable cell line sensitive to stimulation by the FST downstream target GDF11, demonstrated that wildtype FST efficiently and completely antagonized GDF11-stimulated reporter activity. In contrast, the C56Y mutant did not significantly inhibit the stimulation of reporter activity, regardless of the amount of mutant vector transfected.
Sources: Expert list
Clefting disorders v0.43 FOXE1 Chirag Patel Classified gene: FOXE1 as Green List (high evidence)
Clefting disorders v0.43 FOXE1 Chirag Patel Gene: foxe1 has been classified as Green List (High Evidence).
Clefting disorders v0.42 FOXE1 Chirag Patel reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 9697705, 12165566, 16882747; Phenotypes: Bamforth-Lazarus syndrome, OMIM #241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.42 GDF11 Chirag Patel gene: GDF11 was added
gene: GDF11 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to PubMed: 31215115
Phenotypes for gene: GDF11 were set to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122
Review for gene: GDF11 was set to RED
Added comment: In 5 affected members over 3 generations of a family segregating vertebral hypersegmentation and orofacial anomalies, Cox et al. (2019) identified heterozygosity for a missense mutation in the GDF11 gene (R298Q) that was not found in unaffected family members or in public variant databases. Functional analysis demonstrated that the R298Q substitution prevents cleavage to the active form of the protein, resulting in loss of function.
Sources: Expert list
Clefting disorders v0.41 GNAI3 Chirag Patel reviewed gene: GNAI3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22560091, 16114046; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.41 HOXA2 Chirag Patel reviewed gene: HOXA2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18394579; Phenotypes: ?Microtia, hearing impairment, and cleft palate (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Clefting disorders v0.41 KAT5 Chirag Patel Classified gene: KAT5 as Amber List (moderate evidence)
Clefting disorders v0.41 KAT5 Chirag Patel Gene: kat5 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.40 KAT5 Chirag Patel gene: KAT5 was added
gene: KAT5 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT5 were set to PMID: 32822602
Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103
Review for gene: KAT5 was set to AMBER
Added comment: In 3 unrelated patients with neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities, they found 3 different de novo heterozygous missense mutations in the KAT5 gene: R53H, C369S, and S413A. Cleft LP and submucous cleft P were observed in 2/3. The mutations were found by exome sequencing and the patients were ascertained through the GeneMatcher program. None of the mutations were present in the gnomAD database. In vitro functional expression studies showed that the mutations resulted in variably decreased histone acetyltransferase (HAT) activity compared to controls.
Sources: Expert list
Clefting disorders v0.39 LRP6 Chirag Patel Classified gene: LRP6 as Amber List (moderate evidence)
Clefting disorders v0.39 LRP6 Chirag Patel Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.38 LRP6 Chirag Patel gene: LRP6 was added
gene: LRP6 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP6 were set to PMID: 29500247, 26963285
Phenotypes for gene: LRP6 were set to cleft lip; cleft palate; tooth agenesis; oligodontia
Review for gene: LRP6 was set to AMBER
Added comment: 2 unrelated patients with orofacial clefting reported in two papers with LRP6 variants (p.Cys1532fs, p.?, and p.Arg1125*). no functional data.
Sources: Expert list
Clefting disorders v0.37 LRRC32 Chirag Patel Classified gene: LRRC32 as Amber List (moderate evidence)
Clefting disorders v0.37 LRRC32 Chirag Patel Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.36 LRRC32 Chirag Patel gene: LRRC32 was added
gene: LRRC32 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to PMID: 30976112
Phenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074
Review for gene: LRRC32 was set to AMBER
Added comment: Three individuals from two consanguineous families with cleft palate, proliferative retinopathy, and developmental delay had the same homozygous biallelic variant, c.1630C>T; p.(Arg544Ter), segregated and shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Expert list
Clefting disorders v0.35 MED13L Chirag Patel reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25137640, 25712080; Phenotypes: Mental retardation and distinctive facial features with or without cardiac defects, OMIM #616789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.17 HEY2 Chirag Patel gene: HEY2 was added
gene: HEY2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to PMID: 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).

Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.17 HEY2 Chirag Patel gene: HEY2 was added
gene: HEY2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to PMID: 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).

Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Congenital Heart Defect v0.87 HEY2 Chirag Patel gene: HEY2 was added
gene: HEY2 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to PMID: 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).

Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Skeletal dysplasia v0.78 FGF9 Chirag Patel edited their review of gene: FGF9: Added comment: Thuresson et al. (2021) identified a de novo heterozygous missense variant in FGF9 (Pro189Arg) in 16‐year old boy with multiple synostoses syndrome. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding.; Changed publications: PMID: 33140402, 28730625, 19589401, 33174625
Skeletal dysplasia v0.78 FGF9 Chirag Patel Classified gene: FGF9 as Green List (high evidence)
Skeletal dysplasia v0.78 FGF9 Chirag Patel Gene: fgf9 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.77 FGF9 Chirag Patel reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33140402, 28730625, 19589401; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3420 OTUD5 Chirag Patel gene: OTUD5 was added
gene: OTUD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to PMID: 33131077
Phenotypes for gene: OTUD5 were set to X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality
Review for gene: OTUD5 was set to RED
Added comment: 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. No functional studies.
Sources: Literature
Mendeliome v0.6164 SQOR Zornitza Stark gene: SQOR was added
gene: SQOR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQOR were set to 32160317
Phenotypes for gene: SQOR were set to Leigh-like disorder
Review for gene: SQOR was set to AMBER
Added comment: Two unrelated families and some functional data.
Sources: Literature
Mitochondrial disease v0.574 SQOR Zornitza Stark Marked gene: SQOR as ready
Mitochondrial disease v0.574 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.574 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mitochondrial disease v0.574 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.573 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mitochondrial disease v0.573 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.572 SQOR Zornitza Stark gene: SQOR was added
gene: SQOR was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQOR were set to 32160317
Phenotypes for gene: SQOR were set to Leigh-like disorder
Review for gene: SQOR was set to AMBER
Added comment: Two unrelated families and some functional data.
Sources: Literature
Genetic Epilepsy v0.1011 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Genetic Epilepsy v0.1011 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1011 ALG14 Zornitza Stark Classified gene: ALG14 as Green List (high evidence)
Genetic Epilepsy v0.1011 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1010 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 30221345; 23404334; 28733338
Phenotypes for gene: ALG14 were set to intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
Review for gene: ALG14 was set to GREEN
Added comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.
Sources: Expert Review
Genetic Epilepsy v0.1009 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Genetic Epilepsy v0.1009 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1009 ANKRD11 Zornitza Stark Classified gene: ANKRD11 as Green List (high evidence)
Genetic Epilepsy v0.1009 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1008 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 29565525; 30182498
Phenotypes for gene: ANKRD11 were set to KBG syndrome, MIM#148050
Review for gene: ANKRD11 was set to GREEN
Added comment: Seizures are a prominent feature in a subset of individuals with KBG syndrome.
Sources: Expert Review
Mendeliome v0.6163 HYAL2 Zornitza Stark Marked gene: HYAL2 as ready
Mendeliome v0.6163 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6163 HYAL2 Zornitza Stark Classified gene: HYAL2 as Amber List (moderate evidence)
Mendeliome v0.6163 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6162 HYAL2 Zornitza Stark gene: HYAL2 was added
gene: HYAL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055
Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations
Review for gene: HYAL2 was set to AMBER
Added comment: 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies.
Sources: Literature
Clefting disorders v0.35 HYAL2 Zornitza Stark Marked gene: HYAL2 as ready
Clefting disorders v0.35 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.35 HYAL2 Zornitza Stark Classified gene: HYAL2 as Amber List (moderate evidence)
Clefting disorders v0.35 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.34 HYAL2 Zornitza Stark gene: HYAL2 was added
gene: HYAL2 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055
Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations
Review for gene: HYAL2 was set to AMBER
Added comment: 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies.
Sources: Expert list
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Marked gene: SLC9A3 as ready
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Classified gene: SLC9A3 as Amber List (moderate evidence)
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.36 SLC9A3 Zornitza Stark gene: SLC9A3 was added
gene: SLC9A3 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A3 were set to 26358773; 33346580
Phenotypes for gene: SLC9A3 were set to Diarrhoea 8, secretory sodium, congenital 616868; Very Early Onset Inflammatory Bowel Disease
Review for gene: SLC9A3 was set to AMBER
Added comment: Described as a monogenic cause of VEOIBD. 2 patients from unrelated families in a series of 9 cases with SLC9A3-related congenital sodium diarrhoea developed intestinal inflammation/IBD (PMID: 26358773). GWAS have indicated a strong association between SLC9A3 and IBD, and there are supportive mouse models (reviewed in PMID: 26358773).Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580).
Sources: Expert Review
Mendeliome v0.6161 SLC6A20 Zornitza Stark Marked gene: SLC6A20 as ready
Mendeliome v0.6161 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Green List (High Evidence).
Mendeliome v0.6161 SLC6A20 Zornitza Stark Phenotypes for gene: SLC6A20 were changed from to Hyperglycinuria, MIM# 138500
Mendeliome v0.6160 SLC6A20 Zornitza Stark Publications for gene: SLC6A20 were set to
Mendeliome v0.6159 SLC6A20 Zornitza Stark Mode of inheritance for gene: SLC6A20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6158 SLC6A20 Zornitza Stark reviewed gene: SLC6A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24816252, 19033659; Phenotypes: Hyperglycinuria, MIM# 138500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Miscellaneous Metabolic Disorders v0.87 Zornitza Stark removed gene:SLC6A20 from the panel
Miscellaneous Metabolic Disorders v0.86 SLC6A20 Zornitza Stark Classified gene: SLC6A20 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.86 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.85 SLC6A20 Zornitza Stark gene: SLC6A20 was added
gene: SLC6A20 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A20 were set to 24816252; 19033659
Phenotypes for gene: SLC6A20 were set to Hyperglycinuria, MIM# 138500
Review for gene: SLC6A20 was set to GREEN
Added comment: Renal stones.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Classified gene: SLC6A8 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.83 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 27604308; 16738945
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, MIM# 300352
Review for gene: SLC6A8 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Metabolic Disorders Superpanel v1.102 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Neurotransmitter Defects; Fatty Acid Oxidation Defects; Mitochondrial disease; Miscellaneous Metabolic Disorders; Rhabdomyolysis; Lysosomal Storage Disorder; Nephrolithiasis and Nephrocalcinosis; Glycogen Storage Diseases; Peroxisomal Disorders; Hypomagnesaemia; Metabolic renal disease; Vitamin C Pathway Disorders; Porphyria; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Marked gene: SPTLC2 as ready
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Classified gene: SPTLC2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.81 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to 27604308; 20920666
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Review for gene: SPTLC2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Classified gene: SPTLC1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.79 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Review for gene: SPTLC1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Mendeliome v0.6158 SUOX Zornitza Stark Marked gene: SUOX as ready
Mendeliome v0.6158 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Mendeliome v0.6158 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from to Sulfite oxidase deficiency, MIM# 272300
Mendeliome v0.6157 SUOX Zornitza Stark Publications for gene: SUOX were set to
Mendeliome v0.6156 SUOX Zornitza Stark Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6155 SUOX Zornitza Stark reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 9428520, 15952210, 31127934; Phenotypes: Sulfite oxidase deficiency, MIM# 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark edited their review of gene: SUOX: Changed publications: 9428520, 15952210, 31127934; Changed phenotypes: Sulfite oxidase deficiency, MIM# 272300
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Marked gene: SUOX as ready
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Classified gene: SUOX as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.77 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 9428520; 15952210; 31127934]
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, MIM# 272300
Review for gene: SUOX was set to GREEN
Added comment: More than 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Classified gene: TALDO1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.75 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency , MIM#606003
Review for gene: TALDO1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Marked gene: TAT as ready
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Classified gene: TAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.73 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to Tyrosinemia, type II, MIM# 276600
Review for gene: TAT was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Marked gene: TCN2 as ready
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Classified gene: TCN2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.71 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 19373259
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350
Review for gene: TCN2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Metabolic Disorders Superpanel v1.89 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Neurotransmitter Defects; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Miscellaneous Metabolic Disorders; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Metabolic renal disease; Hypomagnesaemia; Vitamin C Pathway Disorders; Porphyria; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia
Metabolic Disorders Superpanel v1.88 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Miscellaneous Metabolic Disorders; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Hypomagnesaemia; Metabolic renal disease; Porphyria; Vitamin C Pathway Disorders; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia
Mendeliome v0.6155 PDE2A Zornitza Stark Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Mendeliome v0.6154 ADH5 Zornitza Stark Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature
Mendeliome v0.6153 ADH5 Zornitza Stark edited their review of gene: ADH5: Changed phenotypes: AMED syndrome, digenic, MIM# 619151, Aplastic anaemia, myelodysplasia, short stature
Bone Marrow Failure v0.172 ADH5 Zornitza Stark Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature
Bone Marrow Failure v0.171 ADH5 Zornitza Stark edited their review of gene: ADH5: Changed phenotypes: AMED syndrome, digenic, MIM# 619151, Aplastic anaemia, myelodysplasia, short stature
Mendeliome v0.6153 PDE2A Zornitza Stark edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Intellectual disability syndromic and non-syndromic v0.3419 PDE2A Zornitza Stark Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Intellectual disability syndromic and non-syndromic v0.3418 PDE2A Zornitza Stark edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Paroxysmal Dyskinesia v0.92 PDE2A Zornitza Stark Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Paroxysmal Dyskinesia v0.91 PDE2A Zornitza Stark edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Mendeliome v0.6153 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790
Mendeliome v0.6152 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790
Macular Dystrophy/Stargardt Disease v0.27 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Macular dystrophy, North Carolina type, MIM#136550 to Macular dystrophy, North Carolina type, MIM#136550; Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790
Macular Dystrophy/Stargardt Disease v0.26 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790
Proteinuria v0.152 NOS1AP Zornitza Stark Marked gene: NOS1AP as ready
Proteinuria v0.152 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
Proteinuria v0.152 NOS1AP Zornitza Stark Classified gene: NOS1AP as Green List (high evidence)
Proteinuria v0.152 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
Proteinuria v0.151 NOS1AP Zornitza Stark gene: NOS1AP was added
gene: NOS1AP was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: NOS1AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOS1AP were set to Nephrotic syndrome, type 22, MIM# 619155
Review for gene: NOS1AP was set to GREEN
Added comment: Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant. Two unrelated families and animal model.

No PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386
Sources: Literature
Mendeliome v0.6152 NOS1AP Zornitza Stark Phenotypes for gene: NOS1AP were changed from to Nephrotic syndrome, type 22, MIM# 619155
Mendeliome v0.6151 NOS1AP Zornitza Stark Mode of inheritance for gene: NOS1AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6150 NOS1AP Zornitza Stark Classified gene: NOS1AP as Green List (high evidence)
Mendeliome v0.6150 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
Mendeliome v0.6149 NOS1AP Zornitza Stark Deleted their comment
Mendeliome v0.6149 NOS1AP Zornitza Stark edited their review of gene: NOS1AP: Added comment: Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant.

Two unrelated families and animal model.

No PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386; Changed rating: GREEN; Changed phenotypes: Nephrotic syndrome, type 22, MIM# 619155; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1007 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures
Genetic Epilepsy v0.1006 NBEA Zornitza Stark edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures
Mendeliome v0.6149 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures
Mendeliome v0.6148 NBEA Zornitza Stark edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures
Intellectual disability syndromic and non-syndromic v0.3418 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures
Intellectual disability syndromic and non-syndromic v0.3417 NBEA Zornitza Stark edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures
Mendeliome v0.6148 DCT Zornitza Stark Marked gene: DCT as ready
Mendeliome v0.6148 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Mendeliome v0.6148 DCT Zornitza Stark Classified gene: DCT as Green List (high evidence)
Mendeliome v0.6148 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Mendeliome v0.6147 DCT Zornitza Stark gene: DCT was added
gene: DCT was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to 33100333
Phenotypes for gene: DCT were set to Oculocutaneous albinism, type VIII, MIM# 619165
Review for gene: DCT was set to GREEN
Added comment: Two unrelated families reported. Functional data including mouse model.
Sources: Expert list
Mitochondrial disease v0.571 SDHD Zornitza Stark Marked gene: SDHD as ready
Mitochondrial disease v0.571 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Mitochondrial disease v0.571 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
Mitochondrial disease v0.570 SDHD Zornitza Stark Publications for gene: SDHD were set to
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Marked gene: DCT as ready
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Classified gene: DCT as Green List (high evidence)
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.16 DCT Zornitza Stark gene: DCT was added
gene: DCT was added to Ocular and Oculocutaneous Albinism. Sources: Literature
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to 33100333
Phenotypes for gene: DCT were set to Oculocutaneous albinism, type VIII, MIM# 619165
Review for gene: DCT was set to GREEN
Added comment: Two unrelated families reported. Functional data including mouse model.
Sources: Literature
Mitochondrial disease v0.569 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.568 SDHD Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367056, 26008905; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Intellectual disability syndromic and non-syndromic v0.3416 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Intellectual disability syndromic and non-syndromic v0.3415 SDHAF1 Zornitza Stark Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3414 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6146 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Mendeliome v0.6146 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Mendeliome v0.6146 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Mendeliome v0.6145 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Mendeliome v0.6144 SDHAF1 Zornitza Stark Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6143 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Mitochondrial disease v0.567 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Mitochondrial disease v0.566 SDHAF1 Zornitza Stark Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.565 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6143 BLOC1S5 Zornitza Stark Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome to Hermansky–Pudlak syndrome 11, MIM#619172
Mendeliome v0.6142 BLOC1S5 Zornitza Stark edited their review of gene: BLOC1S5: Changed phenotypes: Hermansky–Pudlak syndrome 11, MIM#619172
Bleeding and Platelet Disorders v0.210 BLOC1S5 Zornitza Stark Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome type 11, no OMIM# to Hermansky–Pudlak syndrome type 11, MIM#619172
Ocular and Oculocutaneous Albinism v0.15 BLOC1S5 Zornitza Stark Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome type 11, no OMIM# to Hermansky–Pudlak syndrome type 11, 619172
Mendeliome v0.6142 NDUFC2 Zornitza Stark Marked gene: NDUFC2 as ready
Mendeliome v0.6142 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6142 NDUFC2 Zornitza Stark Classified gene: NDUFC2 as Amber List (moderate evidence)
Mendeliome v0.6142 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6141 NDUFC2 Zornitza Stark gene: NDUFC2 was added
gene: NDUFC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFC2 were set to 32969598
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170
Review for gene: NDUFC2 was set to AMBER
Added comment: Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome. Two unrelated families reported, some functional data.
Sources: Expert list
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Marked gene: NDUFC2 as ready
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Classified gene: NDUFC2 as Amber List (moderate evidence)
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.564 NDUFC2 Zornitza Stark gene: NDUFC2 was added
gene: NDUFC2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFC2 were set to 32969598
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170
Review for gene: NDUFC2 was set to AMBER
Added comment: Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome.

Two unrelated families reported, some functional data.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Classified gene: UGT1A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.69 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I 218800; Crigler-Najjar syndrome, type II 606785
Review for gene: UGT1A1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.68 ABCD4 Zornitza Stark Marked gene: ABCD4 as ready
Miscellaneous Metabolic Disorders v0.68 ABCD4 Zornitza Stark Gene: abcd4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Marked gene: UMPS as ready
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Classified gene: UMPS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.66 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to Orotic aciduria, MIM# 258900
Review for gene: UMPS was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3414 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Intellectual disability syndromic and non-syndromic v0.3414 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3414 UPB1 Zornitza Stark Phenotypes for gene: UPB1 were changed from to Beta-ureidopropionase deficiency, OMIM #613161
Intellectual disability syndromic and non-syndromic v0.3413 UPB1 Zornitza Stark Publications for gene: UPB1 were set to
Intellectual disability syndromic and non-syndromic v0.3412 UPB1 Zornitza Stark Mode of inheritance for gene: UPB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3411 UPB1 Zornitza Stark Classified gene: UPB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3411 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3410 UPB1 Zornitza Stark reviewed gene: UPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6140 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Mendeliome v0.6140 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Mendeliome v0.6140 UPB1 Zornitza Stark Phenotypes for gene: UPB1 were changed from to Beta-ureidopropionase deficiency, MIM# 613161
Mendeliome v0.6139 UPB1 Zornitza Stark Publications for gene: UPB1 were set to
Mendeliome v0.6138 UPB1 Zornitza Stark Mode of inheritance for gene: UPB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6137 UPB1 Zornitza Stark reviewed gene: UPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Classified gene: UPB1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.64 UPB1 Zornitza Stark gene: UPB1 was added
gene: UPB1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402; 15385443; 17964839
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, MIM# 613161
Review for gene: UPB1 was set to GREEN
Added comment: Disorder of pyrimidine metabolism.

Phenotype can range from severe neurologic involvement with ID and seizures to normal neurologic development, likely related to amount of residual enzyme activity.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3410 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Intellectual disability syndromic and non-syndromic v0.3410 UROC1 Zornitza Stark Gene: uroc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3410 UROC1 Zornitza Stark Phenotypes for gene: UROC1 were changed from to Urocanase deficiency, MIM#276880
Intellectual disability syndromic and non-syndromic v0.3409 UROC1 Zornitza Stark Publications for gene: UROC1 were set to
Intellectual disability syndromic and non-syndromic v0.3408 UROC1 Zornitza Stark Mode of inheritance for gene: UROC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3407 UROC1 Zornitza Stark Classified gene: UROC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3407 UROC1 Zornitza Stark Gene: uroc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3406 UROC1 Zornitza Stark reviewed gene: UROC1: Rating: RED; Mode of pathogenicity: None; Publications: 19304569, 30619714; Phenotypes: Urocanase deficiency, MIM#276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6137 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Mendeliome v0.6137 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6137 UROC1 Zornitza Stark Phenotypes for gene: UROC1 were changed from to Urocanase deficiency, MIM#276880
Mendeliome v0.6136 UROC1 Zornitza Stark Publications for gene: UROC1 were set to
Mendeliome v0.6135 UROC1 Zornitza Stark Mode of inheritance for gene: UROC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6134 UROC1 Zornitza Stark Classified gene: UROC1 as Amber List (moderate evidence)
Mendeliome v0.6134 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6133 UROC1 Zornitza Stark reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19304569, 30619714; Phenotypes: Urocanase deficiency, MIM#276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.63 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Miscellaneous Metabolic Disorders v0.63 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.63 UROC1 Zornitza Stark Publications for gene: UROC1 were set to 19304569 30619714
Miscellaneous Metabolic Disorders v0.62 UROC1 Zornitza Stark Classified gene: UROC1 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.62 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.61 UROC1 Zornitza Stark gene: UROC1 was added
gene: UROC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROC1 were set to 19304569 30619714
Phenotypes for gene: UROC1 were set to Urocanase deficiency, MIM#276880
Review for gene: UROC1 was set to AMBER
Added comment: Three individuals from two families, one presenting with ID/ataxia, and the sibs from the second family following a normal clinical course despite distinctive biochemical abnormalities.
Sources: Expert list
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Green List (high evidence)
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.61 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 22753090; 26808426
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Review for gene: VIPAS39 was set to GREEN
Added comment: VIPAR is involved in intracellular sorting and trafficking of lysosomal proteins.

More than 5 unrelated families reported.
Sources: Expert list
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.59 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 16896922
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Review for gene: VPS33B was set to GREEN
Added comment: VPS proteins are involved in Golgi-to-lysosome trafficking.

More than 20 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Classified gene: WDR45 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.59 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: WDR45 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: WDR45 were set to 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894
Review for gene: WDR45 was set to GREEN
Added comment: The WDR45 gene has an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.

More than 20 unrelated individuals reported. XLD.
Sources: Expert list
Metabolic Disorders Superpanel v1.61 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Miscellaneous Metabolic Disorders; Glycogen Storage Diseases; Peroxisomal Disorders; Porphyria; Vitamin C Pathway Disorders; Metabolic renal disease; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia
Hyperammonaemia v0.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hyperammonaemia v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM70 were set to 26550569; 21147908; 24740313
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Hyperammonaemia v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance 222700
Hyperammonaemia v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138
Hyperammonaemia v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
Hyperammonaemia v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II 603471
Hyperammonaemia v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Propionicacidemia 606054
Hyperammonaemia v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 27604308; 28482397; 27186703; 22683713; 28778788; 16527507; 29205472
Phenotypes for gene: SERAC1 were set to MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Hypoglycemia
Hyperammonaemia v0.0 PYGM Zornitza Stark gene: PYGM was added
gene: PYGM was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease 232600
Hyperammonaemia v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
Hyperammonaemia v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia 606054
Hyperammonaemia v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia 606054
Hyperammonaemia v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency 266150
Hyperammonaemia v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: OTC 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: OTC were set to 2983225
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250
Hyperammonaemia v0.0 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Hyperammonaemia v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency 237310
Hyperammonaemia v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type 251000
Hyperammonaemia v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Hyperammonaemia v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAA were set to 15523652; 12438653
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive 251100
Hyperammonaemia v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLYCD were set to 10455107; 10417274; 12955715
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency 248360; malonic aciduria
Hyperammonaemia v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913
Phenotypes for gene: IVD were set to Isovaleric acidemia 243500
Hyperammonaemia v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency 253270
Hyperammonaemia v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015
Hyperammonaemia v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015
Hyperammonaemia v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLUD1 were set to 11214910; 10636977
Phenotypes for gene: GLUD1 were set to Hyperinsulinism-hyperammonemia syndrome, 606762
Hyperammonaemia v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680
Hyperammonaemia v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27081516
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB 231680
Hyperammonaemia v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA 231680
Hyperammonaemia v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, type II 248600
Hyperammonaemia v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836
Hyperammonaemia v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA 255120
Hyperammonaemia v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency 237300
Hyperammonaemia v0.0 CA5A Zornitza Stark gene: CA5A was added
gene: CA5A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA5A were set to 24530203
Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency 615751
Hyperammonaemia v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib 248600
Hyperammonaemia v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia 248600
Hyperammonaemia v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I 250950
Hyperammonaemia v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASS1 were set to 2358466
Phenotypes for gene: ASS1 were set to Citrullinemia 215700
Hyperammonaemia v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12408190
Phenotypes for gene: ASL were set to Argininosuccinic aciduria 207900
Hyperammonaemia v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Argininemia 207800
Hyperammonaemia v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 24767728; 11092761
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Hyperammonaemia v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency 201475
Hyperammonaemia v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Hyperammonaemia v0.0 Zornitza Stark Added panel Hyperammonaemia
Clefting disorders v0.33 Zornitza Stark removed gene:UBB from the panel
Clefting disorders v0.32 Zornitza Stark removed gene:GYPE from the panel
Clefting disorders v0.31 PGM1 Chirag Patel Classified gene: PGM1 as Green List (high evidence)
Clefting disorders v0.31 PGM1 Chirag Patel Gene: pgm1 has been classified as Green List (High Evidence).
Clefting disorders v0.30 DLX4 Zornitza Stark Marked gene: DLX4 as ready
Clefting disorders v0.30 DLX4 Zornitza Stark Gene: dlx4 has been classified as Red List (Low Evidence).
Clefting disorders v0.30 DLX4 Zornitza Stark Phenotypes for gene: DLX4 were changed from nonsyndromic cleft/lip palate (CL/P); OFC15; OROFACIAL CLEFT 15; ?Orofacial cleft 15, 616788 to Orofacial cleft 15, MIM# 616788
Clefting disorders v0.29 DLX4 Zornitza Stark Publications for gene: DLX4 were set to 25954033
Clefting disorders v0.28 DLX4 Zornitza Stark Classified gene: DLX4 as Red List (low evidence)
Clefting disorders v0.28 DLX4 Zornitza Stark Gene: dlx4 has been classified as Red List (Low Evidence).
Clefting disorders v0.27 DLX4 Zornitza Stark reviewed gene: DLX4: Rating: RED; Mode of pathogenicity: None; Publications: 25954033, 29738288; Phenotypes: Orofacial cleft 15, MIM# 616788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6133 DLX4 Zornitza Stark Marked gene: DLX4 as ready
Mendeliome v0.6133 DLX4 Zornitza Stark Gene: dlx4 has been classified as Red List (Low Evidence).
Mendeliome v0.6133 DLX4 Zornitza Stark gene: DLX4 was added
gene: DLX4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX4 were set to 25954033; 29738288
Phenotypes for gene: DLX4 were set to Orofacial cleft 15, MIM# 616788
Review for gene: DLX4 was set to RED
Added comment: Single family reported and a SNP association study.
Sources: Expert list
Mendeliome v0.6132 DLG1 Zornitza Stark Marked gene: DLG1 as ready
Mendeliome v0.6132 DLG1 Zornitza Stark Gene: dlg1 has been classified as Red List (Low Evidence).
Mendeliome v0.6132 DLG1 Zornitza Stark gene: DLG1 was added
gene: DLG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DLG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLG1 were set to 28926086
Phenotypes for gene: DLG1 were set to Non-syndromic cleft lip and palate
Review for gene: DLG1 was set to RED
Added comment: GWAS study PMID: 28926086 found genome-wide significance for several SNPs within this gene, identifying it as a candidate gene for non-syndromic cleft lip with or without cleft palate.
Sources: Expert list
Clefting disorders v0.27 PHF8 Zornitza Stark reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Clefting disorders v0.27 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Clefting disorders v0.27 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Clefting disorders v0.27 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from MRXSSD; SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; Cleft lip to Mental retardation syndrome, X-linked, Siderius type, 300263
Clefting disorders v0.26 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Clefting disorders v0.25 PLCB4 Zornitza Stark Marked gene: PLCB4 as ready
Clefting disorders v0.25 PLCB4 Zornitza Stark Gene: plcb4 has been classified as Green List (High Evidence).
Clefting disorders v0.25 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from Cleft palate to Auriculocondylar syndrome 2, MIM# 614669; Cleft palate
Clefting disorders v0.24 PLCB4 Zornitza Stark Publications for gene: PLCB4 were set to
Clefting disorders v0.23 PLCB4 Zornitza Stark Mode of pathogenicity for gene: PLCB4 was changed from to Other
Clefting disorders v0.22 PLCB4 Zornitza Stark Mode of inheritance for gene: PLCB4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.21 PLCB4 Zornitza Stark Classified gene: PLCB4 as Green List (high evidence)
Clefting disorders v0.21 PLCB4 Zornitza Stark Gene: plcb4 has been classified as Green List (High Evidence).
Clefting disorders v0.20 PLCB4 Zornitza Stark reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315542, 23913798; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.20 PLEKHA5 Zornitza Stark Marked gene: PLEKHA5 as ready
Clefting disorders v0.20 PLEKHA5 Zornitza Stark Gene: plekha5 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.20 PLEKHA5 Zornitza Stark Phenotypes for gene: PLEKHA5 were changed from cleft lip to Cleft lip and palate
Clefting disorders v0.19 PLEKHA5 Zornitza Stark Classified gene: PLEKHA5 as Amber List (moderate evidence)
Clefting disorders v0.19 PLEKHA5 Zornitza Stark Gene: plekha5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6131 PLEKHA7 Zornitza Stark Marked gene: PLEKHA7 as ready
Mendeliome v0.6131 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6131 PLEKHA7 Zornitza Stark Phenotypes for gene: PLEKHA7 were changed from to Cleft lip and palate
Mendeliome v0.6130 PLEKHA7 Zornitza Stark Publications for gene: PLEKHA7 were set to
Mendeliome v0.6129 PLEKHA7 Zornitza Stark Mode of inheritance for gene: PLEKHA7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6128 PLEKHA7 Zornitza Stark Classified gene: PLEKHA7 as Amber List (moderate evidence)
Mendeliome v0.6128 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6127 PLEKHA7 Zornitza Stark reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip and palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.17 PLEKHA7 Zornitza Stark Marked gene: PLEKHA7 as ready
Clefting disorders v0.17 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.17 PLEKHA7 Zornitza Stark Phenotypes for gene: PLEKHA7 were changed from cleft lip to Cleft lip and palate
Clefting disorders v0.16 PLEKHA7 Zornitza Stark reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.16 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Clefting disorders v0.16 RPL11 Zornitza Stark Gene: rpl11 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.16 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from Cleft palate to Diamond-Blackfan anemia 7, MIM# 612562; Cleft palate
Clefting disorders v0.15 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.14 RPL11 Zornitza Stark Classified gene: RPL11 as Amber List (moderate evidence)
Clefting disorders v0.14 RPL11 Zornitza Stark Gene: rpl11 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.13 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.13 RSPO2 Zornitza Stark Marked gene: RSPO2 as ready
Clefting disorders v0.13 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Clefting disorders v0.13 RSPO2 Zornitza Stark Phenotypes for gene: RSPO2 were changed from Cleft lip to Tetraamelia syndrome 2, MIM# 618021; Cleft lip and palate
Clefting disorders v0.12 RSPO2 Zornitza Stark Publications for gene: RSPO2 were set to
Clefting disorders v0.11 RSPO2 Zornitza Stark Mode of inheritance for gene: RSPO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.10 RSPO2 Zornitza Stark Classified gene: RSPO2 as Green List (high evidence)
Clefting disorders v0.10 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Clefting disorders v0.9 RSPO2 Zornitza Stark reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29769720, 32457899; Phenotypes: Tetraamelia syndrome 2, MIM# 618021; Mode of inheritance: None
Clefting disorders v0.9 TBX1 Zornitza Stark Marked gene: TBX1 as ready
Clefting disorders v0.9 TBX1 Zornitza Stark Gene: tbx1 has been classified as Green List (High Evidence).
Clefting disorders v0.9 TBX1 Zornitza Stark Phenotypes for gene: TBX1 were changed from CTHM; CONOTRUNCAL HEART MALFORMATIONS; Cleft palate to Velocardiofacial syndrome, MIM# 192430; Cleft palate
Clefting disorders v0.8 TBX1 Zornitza Stark Publications for gene: TBX1 were set to
Clefting disorders v0.7 TBX1 Zornitza Stark Classified gene: TBX1 as Green List (high evidence)
Clefting disorders v0.7 TBX1 Zornitza Stark Gene: tbx1 has been classified as Green List (High Evidence).
Clefting disorders v0.6 TBX1 Zornitza Stark Tag SV/CNV tag was added to gene: TBX1.
Clefting disorders v0.6 TBX1 Zornitza Stark reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29500247; Phenotypes: Velocardiofacial syndrome, MIM# 192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.6 TBX2 Zornitza Stark gene: TBX2 was added
gene: TBX2 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX2 were set to 29726930
Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223
Review for gene: TBX2 was set to RED
Added comment: Four individuals reported from two unrelated families with a syndromic disorder, chiefly comprising skeletal, endocrine and immune abnormalities, reminiscent of VCFS. One of the four reported individuals had unilateral cleft lip/palate.
Sources: Expert list
Mendeliome v0.6127 ALMS1 Elena Savva reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17594715; Phenotypes: Alstrom syndrome MIM#203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.5 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Clefting disorders v0.5 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Red List (Low Evidence).
Clefting disorders v0.5 TFAP2B Zornitza Stark Phenotypes for gene: TFAP2B were changed from Cleft lip to Char syndrome, MIM# 169100
Clefting disorders v0.4 TFAP2B Zornitza Stark Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.3 TFAP2B Zornitza Stark reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, MIM# 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.3 TOGARAM1 Zornitza Stark Marked gene: TOGARAM1 as ready
Clefting disorders v0.3 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Red List (Low Evidence).
Clefting disorders v0.3 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Clefting_GEL. Sources: Expert Review
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439
Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Review for gene: TOGARAM1 was set to RED
Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding.
Sources: Expert Review
Clefting disorders v0.2 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Clefting disorders v0.2 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Clefting disorders v0.2 TRRAP Zornitza Stark Classified gene: TRRAP as Green List (high evidence)
Clefting disorders v0.2 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Clefting disorders v0.1 TRRAP Zornitza Stark gene: TRRAP was added
gene: TRRAP was added to Clefting_GEL. Sources: Expert Review
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism, MIM# 618454
Review for gene: TRRAP was set to GREEN
Added comment: 13 unrelated individuals reported with a complex syndromic neurodevelopmental disorder. 5 had cleft lip/palate.
Sources: Expert Review
Mendeliome v0.6127 GYS2 Zornitza Stark Marked gene: GYS2 as ready
Mendeliome v0.6127 GYS2 Zornitza Stark Gene: gys2 has been classified as Green List (High Evidence).
Mendeliome v0.6127 GYS2 Zornitza Stark Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver (MIM#240600)
Mendeliome v0.6126 GYS2 Zornitza Stark Publications for gene: GYS2 were set to
Mendeliome v0.6125 GYS2 Zornitza Stark Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6124 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32395408, 28245189; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.29 GYS2 Zornitza Stark Marked gene: GYS2 as ready
Glycogen Storage Diseases v0.29 GYS2 Zornitza Stark Gene: gys2 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.29 GYS2 Zornitza Stark Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver (MIM#240600)
Glycogen Storage Diseases v0.28 GYS2 Zornitza Stark Publications for gene: GYS2 were set to
Glycogen Storage Diseases v0.27 GYS2 Zornitza Stark Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3406 HNRNPU Zornitza Stark Marked gene: HNRNPU as ready
Intellectual disability syndromic and non-syndromic v0.3406 HNRNPU Zornitza Stark Gene: hnrnpu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3406 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391
Genetic Epilepsy v0.1006 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391
Mendeliome v0.6124 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391
Malignant Hyperthermia Susceptibility v1.3 ATP2A1 Bryony Thompson Marked gene: ATP2A1 as ready
Malignant Hyperthermia Susceptibility v1.3 ATP2A1 Bryony Thompson Gene: atp2a1 has been classified as Amber List (Moderate Evidence).
Malignant Hyperthermia Susceptibility v1.3 ATP2A1 Bryony Thompson Classified gene: ATP2A1 as Amber List (moderate evidence)
Malignant Hyperthermia Susceptibility v1.3 ATP2A1 Bryony Thompson Gene: atp2a1 has been classified as Amber List (Moderate Evidence).
Malignant Hyperthermia Susceptibility v1.2 ATP2A1 Bryony Thompson gene: ATP2A1 was added
gene: ATP2A1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP2A1 were set to 32040565
Phenotypes for gene: ATP2A1 were set to Brody myopathy MIM#601003
Review for gene: ATP2A1 was set to AMBER
Added comment: In a study of 40 Brody disease cases, 3 unrelated cases with biallelic variants had positive in vitro contracture tests on muscle biopsy, and 2 of these cases had episode(s) of suspected MH following administration of general anaesthetics. An additional case experienced several episodes of unexplained hyperthermia, but had not undergone IVCT. 8 other cases reported in the cohort have undergone general anaesthesia without any adverse reactions.
Sources: Literature
Glycogen Storage Diseases v0.26 GYS2 Crystle Lee reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32395408, 28245189; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6123 HNRNPU Elena Savva reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28944577, 28393272; Phenotypes: Developmental and epileptic encephalopathy 54 MIM# 617391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated Cardiomyopathy v0.91 RPL3L Zornitza Stark Mode of inheritance for gene: RPL3L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6123 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Mendeliome v0.6123 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Mendeliome v0.6123 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Mendeliome v0.6122 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Mendeliome v0.6121 OPA3 Zornitza Stark Mode of pathogenicity for gene: OPA3 was changed from to Other
Mendeliome v0.6120 OPA3 Zornitza Stark Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6119 OPA3 Zornitza Stark reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25159689, 31119193, 31928268; Phenotypes: 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR, Optic atrophy 3 with cataract (MIM#165300), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Optic Atrophy v0.121 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Optic Atrophy v0.121 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Optic Atrophy v0.121 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Optic Atrophy v0.120 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Optic Atrophy v0.119 OPA3 Zornitza Stark Mode of pathogenicity for gene: OPA3 was changed from to Other
Optic Atrophy v0.118 OPA3 Zornitza Stark Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.50 KRT8 Sarah Righetti reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528; Phenotypes: CIRRHOSIS, FAMILIAL, MIM #215600; Mode of inheritance: Other
Malignant Hyperthermia Susceptibility v1.1 TRPV1 Bryony Thompson Publications for gene: TRPV1 were set to
Dilated Cardiomyopathy v0.90 RPL3L Elena Savva edited their review of gene: RPL3L: Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.117 OPA3 Teresa Zhao reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25159689, 31119193, 31928268; Phenotypes: 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR, Optic atrophy 3 with cataract (MIM#165300), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Marked gene: ASS1 as ready
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Gene: ass1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Classified gene: ASS1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Gene: ass1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.57 ASS1 Bryony Thompson gene: ASS1 was added
gene: ASS1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASS1 were set to 19006241
Phenotypes for gene: ASS1 were set to Citrullinemia MIM#215700; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Review for gene: ASS1 was set to GREEN
gene: ASS1 was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Marked gene: ASPA as ready
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Gene: aspa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Classified gene: ASPA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Gene: aspa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.55 ASPA Bryony Thompson gene: ASPA was added
gene: ASPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to 8252036; 8023850
Phenotypes for gene: ASPA were set to Canavan disease MIM#271900; disorder of amino acid metabolism
Review for gene: ASPA was set to GREEN
gene: ASPA was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Marked gene: ASL as ready
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Gene: asl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Classified gene: ASL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Gene: asl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.53 ASL Bryony Thompson gene: ASL was added
gene: ASL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12384776
Phenotypes for gene: ASL were set to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Review for gene: ASL was set to GREEN
gene: ASL was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Marked gene: ARG1 as ready
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Gene: arg1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Classified gene: ARG1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Gene: arg1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.51 ARG1 Bryony Thompson gene: ARG1 was added
gene: ARG1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 2365823; 1598908; 29726057
Phenotypes for gene: ARG1 were set to Argininemia MIM#207800; Urea cycle disorders and inherited hyperammonaemias; disorder of arginine metabolism
Review for gene: ARG1 was set to GREEN
gene: ARG1 was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of of arginine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Marked gene: AMT as ready
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Gene: amt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Classified gene: AMT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Gene: amt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.49 AMT Bryony Thompson gene: AMT was added
gene: AMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMT were set to 8188235; 10873393; 11592811
Phenotypes for gene: AMT were set to Glycine encephalopathy MIM#605899; disorder of glycine metabolism
Review for gene: AMT was set to GREEN
gene: AMT was marked as current diagnostic
Added comment: Biallelic variants cause inborn error of glycine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.3405 LAS1L Zornitza Stark Publications for gene: LAS1L were set to 25644381; 25644381
Intellectual disability syndromic and non-syndromic v0.3404 LAS1L Zornitza Stark Classified gene: LAS1L as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3404 LAS1L Zornitza Stark Gene: las1l has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3403 LAS1L Zornitza Stark changed review comment from: Three unrelated families.; to: Three unrelated families, however note the pathogenicity of the variant reported in PMID 26358559 is questionable.
Intellectual disability syndromic and non-syndromic v0.3403 LAS1L Zornitza Stark edited their review of gene: LAS1L: Changed rating: AMBER; Changed publications: 25644381, 26358559
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Marked gene: ALPL as ready
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Gene: alpl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Classified gene: ALPL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Gene: alpl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.47 ALPL Bryony Thompson gene: ALPL was added
gene: ALPL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 3174660; 1409720
Phenotypes for gene: ALPL were set to Hypophosphatasia; disorder of bone metabolism
Review for gene: ALPL was set to GREEN
gene: ALPL was marked as current diagnostic
Added comment: Inborn error of bone metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Marked gene: ALDH7A1 as ready
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Gene: aldh7a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Classified gene: ALDH7A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Gene: aldh7a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.45 ALDH7A1 Bryony Thompson gene: ALDH7A1 was added
gene: ALDH7A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH7A1 were set to 16491085; 17068770
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent MM#266100; disorder of lysine metabolism
Review for gene: ALDH7A1 was set to GREEN
gene: ALDH7A1 was marked as current diagnostic
Added comment: Inborn error of lysine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Marked gene: ALDH6A1 as ready
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Classified gene: ALDH6A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.43 ALDH6A1 Bryony Thompson gene: ALDH6A1 was added
gene: ALDH6A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH6A1 were set to 32151545; 10947204; 21863277; 23835272
Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism
Review for gene: ALDH6A1 was set to GREEN
gene: ALDH6A1 was marked as current diagnostic
Added comment: At least 5 unrelated cases reported. Inborn error of valine and pyrimidine catabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Marked gene: ALDH5A1 as ready
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Gene: aldh5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Classified gene: ALDH5A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Gene: aldh5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.41 ALDH5A1 Bryony Thompson gene: ALDH5A1 was added
gene: ALDH5A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH5A1 were set to 9683595; 14635103; 32887777
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency MIM#271980; disorder of neurotransmitter metabolism
Review for gene: ALDH5A1 was set to GREEN
gene: ALDH5A1 was marked as current diagnostic
Added comment: Inborn error of gamma-aminobutyric acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Marked gene: ALDH4A1 as ready
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Gene: aldh4a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Classified gene: ALDH4A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Gene: aldh4a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.39 ALDH4A1 Bryony Thompson gene: ALDH4A1 was added
gene: ALDH4A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 9700195; 31884946
Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism
Review for gene: ALDH4A1 was set to GREEN
gene: ALDH4A1 was marked as current diagnostic
Added comment: At least 4 unrelated cases reported. Biallelic variants cause an inborn error or ornithine/proline metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Marked gene: ALDH3A2 as ready
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Classified gene: ALDH3A2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.37 ALDH3A2 Bryony Thompson gene: ALDH3A2 was added
gene: ALDH3A2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 8528251; 31273323
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; disorder of lipid metabolism
Review for gene: ALDH3A2 was set to GREEN
gene: ALDH3A2 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry), and causes an inborn error of lipid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson changed review comment from: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism.
Sources: NHS GMS; to: Well-established gene-disease association (see OMIM). Certain types of disease-causing variants alter proline/ornithine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Marked gene: ALDH18A1 as ready
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Gene: aldh18a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Classified gene: ALDH18A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Gene: aldh18a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.35 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 32221810; 11092761; 29754261; 26026163
Phenotypes for gene: ALDH18A1 were set 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
Review for gene: ALDH18A1 was set to GREEN
gene: ALDH18A1 was marked as current diagnostic
Added comment: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism.
Sources: NHS GMS
Pulmonary Arterial Hypertension v1.0 Zornitza Stark promoted panel to version 1.0
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Classified gene: FOXF1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.57 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Pulmonary Arterial Hypertension. Sources: Expert Review
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXF1 were set to 23505205; 27071622; 27855150; 19500772
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Review for gene: FOXF1 was set to GREEN
Added comment: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported. Most are sporadic, but a few inherited, generally from mother, incomplete paternal imprinting of this gene has been suggested. Mechanism is LOF, many variants located in the DNA binding domain.
Sources: Expert Review
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Classified gene: FOXF1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.17 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXF1 were set to 23505205; 27071622; 27855150; 19500772
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Review for gene: FOXF1 was set to GREEN
Added comment: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported. Most are sporadic, but a few inherited, generally from mother, incomplete paternal imprinting of this gene has been suggested. Mechanism is LOF, many variants located in the DNA binding domain.
Sources: Expert Review
Mendeliome v0.6119 FOXF1 Zornitza Stark changed review comment from: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.; to: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported.
Mendeliome v0.6119 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Mendeliome v0.6119 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Mendeliome v0.6119 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Mendeliome v0.6118 FOXF1 Zornitza Stark Publications for gene: FOXF1 were set to
Mendeliome v0.6117 FOXF1 Zornitza Stark Mode of inheritance for gene: FOXF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6116 FOXF1 Zornitza Stark reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23505205; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6116 FOXF1 Kristin Rigbye reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23505205, 27071622, 27855150; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins (MIM#265380), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Metabolic Disorders Superpanel v1.33 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Metabolic Disorders Superpanel v1.32 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Miscellaneous Metabolic Disorders; Glycogen Storage Diseases; Peroxisomal Disorders; Vitamin C Pathway Disorders; Porphyria; Metabolic renal disease; Iron metabolism disorders; Hyperlipidaemia
Metal Metabolism Disorders v0.10 Zornitza Stark Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.6116 STEAP3 Zornitza Stark Marked gene: STEAP3 as ready
Mendeliome v0.6116 STEAP3 Zornitza Stark Gene: steap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6116 STEAP3 Zornitza Stark Phenotypes for gene: STEAP3 were changed from to Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234
Mendeliome v0.6115 STEAP3 Zornitza Stark Publications for gene: STEAP3 were set to
Mendeliome v0.6114 STEAP3 Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6113 STEAP3 Zornitza Stark Classified gene: STEAP3 as Amber List (moderate evidence)
Mendeliome v0.6113 STEAP3 Zornitza Stark Gene: steap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6112 STEAP3 Zornitza Stark reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22031863, 25515317; Phenotypes: Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Marked gene: HEPH as ready
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Gene: heph has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Phenotypes for gene: HEPH were changed from to Iron metabolism defect
Metal Metabolism Disorders v0.8 HEPH Zornitza Stark Publications for gene: HEPH were set to
Metal Metabolism Disorders v0.7 HEPH Zornitza Stark Classified gene: HEPH as Red List (low evidence)
Metal Metabolism Disorders v0.7 HEPH Zornitza Stark Gene: heph has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.6 HEPH Zornitza Stark reviewed gene: HEPH: Rating: RED; Mode of pathogenicity: None; Publications: 30182051, 30060949; Phenotypes: Iron metabolism defect; Mode of inheritance: None
Mendeliome v0.6112 FTH1 Zornitza Stark Marked gene: FTH1 as ready
Mendeliome v0.6112 FTH1 Zornitza Stark Gene: fth1 has been classified as Red List (Low Evidence).
Mendeliome v0.6112 FTH1 Zornitza Stark gene: FTH1 was added
gene: FTH1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FTH1 were set to 11389486
Phenotypes for gene: FTH1 were set to Hemochromatosis, type 5, MIM# 615517
Review for gene: FTH1 was set to RED
Added comment: One multi-generational family with 5' UTR variant.
Sources: Expert list
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Marked gene: FTH1 as ready
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Gene: fth1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Tag 5'UTR tag was added to gene: FTH1.
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Phenotypes for gene: FTH1 were changed from 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5 to Hemochromatosis, type 5, MIM# 615517
Metal Metabolism Disorders v0.5 FTH1 Zornitza Stark Classified gene: FTH1 as Red List (low evidence)
Metal Metabolism Disorders v0.5 FTH1 Zornitza Stark Gene: fth1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.4 FTH1 Zornitza Stark reviewed gene: FTH1: Rating: RED; Mode of pathogenicity: None; Publications: 11389486; Phenotypes: Hemochromatosis, type 5, MIM# 615517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6111 CYBRD1 Zornitza Stark Marked gene: CYBRD1 as ready
Mendeliome v0.6111 CYBRD1 Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence).
Mendeliome v0.6111 CYBRD1 Zornitza Stark gene: CYBRD1 was added
gene: CYBRD1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CYBRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYBRD1 were set to 15338274
Phenotypes for gene: CYBRD1 were set to Iron overload
Review for gene: CYBRD1 was set to RED
Added comment: Paucity of publications. One of the variants reported in PMID 15338274, p.Arg226His is present in over 1,000 hets in gnomad.
Sources: Expert list
Metal Metabolism Disorders v0.4 CYBRD1 Zornitza Stark Marked gene: CYBRD1 as ready
Metal Metabolism Disorders v0.4 CYBRD1 Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.4 CYBRD1 Zornitza Stark Phenotypes for gene: CYBRD1 were changed from Iron overload; NA IRON OVERLOAD; N/A Primary iron overload to Iron overload
Metal Metabolism Disorders v0.3 CYBRD1 Zornitza Stark Mode of inheritance for gene: CYBRD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.2 CYBRD1 Zornitza Stark Classified gene: CYBRD1 as Red List (low evidence)
Metal Metabolism Disorders v0.2 CYBRD1 Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.1 CYBRD1 Zornitza Stark reviewed gene: CYBRD1: Rating: RED; Mode of pathogenicity: None; Publications: 15338274; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6110 BMP6 Zornitza Stark Marked gene: BMP6 as ready
Mendeliome v0.6110 BMP6 Zornitza Stark Gene: bmp6 has been classified as Green List (High Evidence).
Mendeliome v0.6110 BMP6 Zornitza Stark Classified gene: BMP6 as Green List (high evidence)
Mendeliome v0.6110 BMP6 Zornitza Stark Gene: bmp6 has been classified as Green List (High Evidence).
Mendeliome v0.6109 BMP6 Zornitza Stark gene: BMP6 was added
gene: BMP6 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BMP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP6 were set to 26582087; 32464486
Phenotypes for gene: BMP6 were set to Iron overload, mild to moderate
Review for gene: BMP6 was set to GREEN
Added comment: More than 9 individuals reported with iron overload and variants in this gene.
Sources: Expert list
Metal Metabolism Disorders v0.1 BMP6 Zornitza Stark Marked gene: BMP6 as ready
Metal Metabolism Disorders v0.1 BMP6 Zornitza Stark Gene: bmp6 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.1 BMP6 Zornitza Stark Phenotypes for gene: BMP6 were changed from 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD to Iron overload, mild to moderate
Metal Metabolism Disorders v0.0 BMP6 Zornitza Stark reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26582087, 32464486; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.0 STEAP3 Zornitza Stark gene: STEAP3 was added
gene: STEAP3 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: STEAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STEAP3 were set to 22031863
Phenotypes for gene: STEAP3 were set to 615234 ?Anemia, hypochromic microcytic, with iron overload 2
Metal Metabolism Disorders v0.0 HEPH Zornitza Stark gene: HEPH was added
gene: HEPH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: HEPH was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Metal Metabolism Disorders v0.0 FTH1 Zornitza Stark gene: FTH1 was added
gene: FTH1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTH1 were set to 11389486
Phenotypes for gene: FTH1 were set to 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5
Metal Metabolism Disorders v0.0 FECH Zornitza Stark gene: FECH was added
gene: FECH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FECH were set to 20857522; 26387792; 28614581
Phenotypes for gene: FECH were set to EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Metal Metabolism Disorders v0.0 TMPRSS6 Zornitza Stark gene: TMPRSS6 was added
gene: TMPRSS6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS6 were set to 19357398; 18408718
Phenotypes for gene: TMPRSS6 were set to IRIDA; 206200 Iron-refractory iron deficiency anemia; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Metal Metabolism Disorders v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 11313241; 10802645
Phenotypes for gene: TFR2 were set to 604250 Hemochromatosis, type 3; HFE3; 604250 HEMOCHROMATOSIS, TYPE 3
Metal Metabolism Disorders v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TF were set to 15466165; 11110675
Phenotypes for gene: TF were set to 209300 Atransferrinemia; 209300 Atransferrinemia, Hypoferritinaemia
Metal Metabolism Disorders v0.0 SLC40A1 Zornitza Stark gene: SLC40A1 was added
gene: SLC40A1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC40A1 were set to 16351644; 11431687
Phenotypes for gene: SLC40A1 were set to 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 606069 Hemochromatosis, type 4
Metal Metabolism Disorders v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 21393332; 19412178; 24323989
Phenotypes for gene: SLC25A38 were set to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Metal Metabolism Disorders v0.0 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC11A2 were set to 16439678; 15459009; 16160008
Phenotypes for gene: SLC11A2 were set to AHMIO1; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia; 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; DMT1-related anemia
Metal Metabolism Disorders v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE2 were set to 14982873
Phenotypes for gene: HFE2 were set to HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A
Metal Metabolism Disorders v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 18199861
Phenotypes for gene: HFE were set to 235200 Hemochromatosis; 235200 HEMOCHROMATOSIS, TYPE 1; 235200HEMOCHROMATOSIS, TYPE 1; HFE1
Metal Metabolism Disorders v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAMP were set to 12915468; 15198949; 12469120
Phenotypes for gene: HAMP were set to 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B
Metal Metabolism Disorders v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRX5 were set to 24003969; 30401706; 25342667; 30098397
Phenotypes for gene: GLRX5 were set to 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Metal Metabolism Disorders v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 27265538; 27816428; 20575041
Phenotypes for gene: GBA were set to 230800 Gaucher disease, type I; 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III
Metal Metabolism Disorders v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTL were set to 23940258; 18413574; 23421845; 19176363
Phenotypes for gene: FTL were set to 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; LFTD; NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 606159 Neurodegeneration with brain iron accumulation 3; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 600886 Hyperferritinemia-cataract syndrome; 615604 L-ferritin deficiency, dominant and recessive
Metal Metabolism Disorders v0.0 CYBRD1 Zornitza Stark gene: CYBRD1 was added
gene: CYBRD1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: CYBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYBRD1 were set to 15338274; 27884173
Phenotypes for gene: CYBRD1 were set to Iron overload; NA IRON OVERLOAD; N/A Primary iron overload
Metal Metabolism Disorders v0.0 CP Zornitza Stark gene: CP was added
gene: CP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CP were set to 15338274
Phenotypes for gene: CP were set to 604290 ACERULOPLASMINEMIA; 604290 Hemosiderosis, systemic, due to aceruloplasminemia
Metal Metabolism Disorders v0.0 BMP6 Zornitza Stark gene: BMP6 was added
gene: BMP6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: BMP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP6 were set to 26582087
Phenotypes for gene: BMP6 were set to 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD
Metal Metabolism Disorders v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 24002824; 18210110; 27982432; 28433102; 24266916
Phenotypes for gene: ATP7B were set to 277900 WILSON DISEASE
Metal Metabolism Disorders v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ALAS2 were set to 24003969; 30401706; 10029606; 30098397
Phenotypes for gene: ALAS2 were set to 300752 Protoporphyria, erythropoietic, X-linked; Sideroblastic anaemia - increased serum ferritin; 300751 Anemia, sideroblastic, 1
Metal Metabolism Disorders v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ABCB7 were set to 10196363; 30401706; 29787825
Phenotypes for gene: ABCB7 were set to 301310 Anemia, sideroblastic, with ataxia
Metal Metabolism Disorders v0.0 Zornitza Stark Added panel Iron metabolism disorders
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Marked gene: MVK as ready
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377)
Autoinflammatory Disorders v0.100 MVK Zornitza Stark Publications for gene: MVK were set to
Autoinflammatory Disorders v0.99 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.34 AKR1D1 Bryony Thompson Phenotypes for gene: AKR1D1 were changed from Bile acid synthesis defect, congenital, 2 MIM#235555 to Bile acid synthesis defect, congenital, 2 MIM#235555; disorder of bile acid metabolism
Miscellaneous Metabolic Disorders v0.33 AHCY Bryony Thompson Phenotypes for gene: AHCY were changed from Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752; disorder of methionine metabolism
Miscellaneous Metabolic Disorders v0.32 ADSL Bryony Thompson Phenotypes for gene: ADSL were changed from Adenylosuccinase deficiency MIM#103050 to Adenylosuccinase deficiency MIM#103050; disorder of purine metabolism
Miscellaneous Metabolic Disorders v0.31 ADA Bryony Thompson Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700; disorder of purine metabolism
Miscellaneous Metabolic Disorders v0.30 ACY1 Bryony Thompson Phenotypes for gene: ACY1 were changed from Aminoacylase 1 deficiency MIM#609924 to Aminoacylase 1 deficiency MIM#609924; disorder of amino acid metabolism
Miscellaneous Metabolic Disorders v0.29 ACAD8 Bryony Thompson Phenotypes for gene: ACAD8 were changed from Isobutyryl-CoA dehydrogenase deficiency MIM#611283 to Isobutyryl-CoA dehydrogenase deficiency MIM#611283; of valine metabolism
Miscellaneous Metabolic Disorders v0.28 ABHD5 Bryony Thompson Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; lipid metabolism
Miscellaneous Metabolic Disorders v0.27 ABHD12 Bryony Thompson Phenotypes for gene: ABHD12 were changed from Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; disorder of of endocannabinoid metabolism
Miscellaneous Metabolic Disorders v0.26 ABCD4 Bryony Thompson Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857; disorder of vitamin B12 metabolism
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Marked gene: AKR1D1 as ready
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Gene: akr1d1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Classified gene: AKR1D1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Gene: akr1d1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.24 AKR1D1 Bryony Thompson gene: AKR1D1 was added
gene: AKR1D1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1D1 were set to 12970144; 20522910; 15030995
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 MIM#235555
Review for gene: AKR1D1 was set to GREEN
gene: AKR1D1 was marked as current diagnostic
Added comment: Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Marked gene: AHCY as ready
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Gene: ahcy has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Classified gene: AHCY as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Gene: ahcy has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.22 AHCY Bryony Thompson gene: AHCY was added
gene: AHCY was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 28779239; 26095522; 20852937; 15024124; 27626380
Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Review for gene: AHCY was set to GREEN
gene: AHCY was marked as current diagnostic
Added comment: S-adenosylhomocysteine hydrolase deficiency causes an inborn error in methionine metabolism. >3 cases reported with biallelic variants. Mouse model is homozygous-lethal.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Marked gene: ADSL as ready
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Gene: adsl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Classified gene: ADSL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Gene: adsl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.20 ADSL Bryony Thompson gene: ADSL was added
gene: ADSL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSL were set to 1302001; 22180458; 18524658; 27626380
Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency MIM#103050
Review for gene: ADSL was set to GREEN
gene: ADSL was marked as current diagnostic
Added comment: Adenylosuccinase deficiency is an autosomal recessive inborn error of purine metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. Well-established gene-disease association (see OMIM). Knockout mouse model is homozygous lethal.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Marked gene: ADA as ready
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Gene: ada has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Classified gene: ADA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Gene: ada has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.18 ADA Bryony Thompson gene: ADA was added
gene: ADA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 3475710; 3684597; 2783588; 1680289
Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700
Review for gene: ADA was set to GREEN
gene: ADA was marked as current diagnostic
Added comment: Well-established cause of disease (see OMIM). Biallelic variants cause an inborn error in purine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Marked gene: ACY1 as ready
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Gene: acy1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Classified gene: ACY1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Gene: acy1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.16 ACY1 Bryony Thompson gene: ACY1 was added
gene: ACY1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 16465618; 17562838; 24117009
Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency MIM#609924
Review for gene: ACY1 was set to GREEN
gene: ACY1 was marked as current diagnostic
Added comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.15 ACSF3 Bryony Thompson Classified gene: ACSF3 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.15 ACSF3 Bryony Thompson Gene: acsf3 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.14 ACSF3 Bryony Thompson gene: ACSF3 was added
gene: ACSF3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSF3 were set to 21841779; 30740739
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria MIM#614265
Review for gene: ACSF3 was set to AMBER
Added comment: ACSF3 deficiency causes combined malonic and methylmalonic aciduria, however the clinical significance of this deficiency appears uncertain. No specific or consistent pattern of clinical manifestations was identified in an unselected cohort of 25 cases identified through NBS in Quebec.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Marked gene: ACAD8 as ready
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Classified gene: ACAD8 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.12 ACAD8 Bryony Thompson gene: ACAD8 was added
gene: ACAD8 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD8 were set to 12359132; 17304052
Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency MIM#611283
Review for gene: ACAD8 was set to GREEN
gene: ACAD8 was marked as current diagnostic
Added comment: Inborn error of valine metabolism. Isobutyryl-CoA dehydrogenase deficiency was identified in at least 9 cases in 8 families, 6 of the cases were asymptomatic at the time of the study.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Marked gene: ABHD5 as ready
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Classified gene: ABHD5 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.10 ABHD5 Bryony Thompson gene: ABHD5 was added
gene: ABHD5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 30795549
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis
Review for gene: ABHD5 was set to GREEN
gene: ABHD5 was marked as current diagnostic
Added comment: Well-established disease gene (see OMIM) that is involved in lipid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Marked gene: ABHD12 as ready
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Classified gene: ABHD12 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.8 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD12 were set to 20797687
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Review for gene: ABHD12 was set to GREEN
gene: ABHD12 was marked as current diagnostic
Added comment: Well-established disease gene (see OMIM). Biallelic variants cause an inborn error of endocannabinoid metabolism.
Sources: NHS GMS
Metabolic Disorders Superpanel v1.4 Bryony Thompson Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Vitamin C Pathway Disorders; Porphyria; Metabolic renal disease; Miscellaneous Metabolic Disorders; Hyperlipidaemia
Miscellaneous Metabolic Disorders v0.6 Bryony Thompson Panel status changed from internal to public
Miscellaneous Metabolic Disorders v0.5 ABCD4 Bryony Thompson Classified gene: ABCD4 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.5 ABCD4 Bryony Thompson Gene: abcd4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.4 ABCD4 Bryony Thompson gene: ABCD4 was added
gene: ABCD4 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511
Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
Review for gene: ABCD4 was set to GREEN
Added comment: Inborn error of vitamin B12 metabolism - >3 unrelated cases and a supporting mouse model
PMID: 22922874 - 2 unrelated cases with biallelic variants. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype.
PMID: 30651581 - a Chinese case with a homozygous variant c.423C>G (p.Asn141Lys)
PMID: 28572511 - 1 compound het case with supporting functional assays
PMID: 31113616 - abcd4 null zebrafish model leads to vitamin B 12-deficiency anemia
Sources: NHS GMS
Mendeliome v0.6108 CREB3L3 Bryony Thompson Classified gene: CREB3L3 as Amber List (moderate evidence)
Mendeliome v0.6108 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Marked gene: CREB3L3 as ready
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Classified gene: CREB3L3 as Amber List (moderate evidence)
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6107 CREB3L3 Bryony Thompson gene: CREB3L3 was added
gene: CREB3L3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREB3L3 were set to 32580631; 29954705; 27982131; 27291420; 26427795; 21666694
Phenotypes for gene: CREB3L3 were set to Hyperlipidaemia; hypertriglyceridemia
Review for gene: CREB3L3 was set to AMBER
Added comment: PMID: 26427795 - a loss of function variant (c.359delG p.K120fsX20) was identified in 2 affected adult siblings and a 13 yo normotriglyceridemic daughter of one of the siblings.
PMID: 21666694 - Lipoprotein profiles of the families of 4 individuals with CREB3L3 nonsense mutations showed a significantly elevated mean plasma TG level in 11 mutation carriers compared with 5 non-carrier first-degree relatives (9.67 ± 4.70 vs. 1.66 ± 0.55 mM, P = 0.021, Wilcoxon test). 3 of those families have the same variant - Lys245GlufsTer130, which has 126 (281,946 alleles) hets in gnomAD v2.1.
PMID: 32580631 - case-control analysis of nonmonogenic severe hypertriglyceridemia cases (N=265) vs normolipidemic controls (N=477), identified 5 cases with LoF variants (3 of whom had the Lys245GlufsTer130 frameshift) and none in controls. OR 20.2 (95% CI 1.11–366.1) p = 0.002, adjusted p = 0.03.
The frequency of Lys245GlufsTer130 is higher than expected for a dominant disorder, but other loss of function variants have been identified. The gene may be associated with variable penetrance. There are multiple supporting null mouse models with hyperlipidaemia.
Sources: Expert list
Dyslipidaemia v0.3 CREB3L3 Bryony Thompson reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32580631, 29954705, 27982131, 27291420, 26427795, 21666694; Phenotypes: Hyperlipidaemia, hypertriglyceridemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Marked gene: GPIHBP1 as ready
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Gene: gpihbp1 has been classified as Green List (High Evidence).
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Classified gene: GPIHBP1 as Green List (high evidence)
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Gene: gpihbp1 has been classified as Green List (High Evidence).
Mendeliome v0.6105 GPIHBP1 Bryony Thompson gene: GPIHBP1 was added
gene: GPIHBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPIHBP1 were set to 17883852; 19304573; 20026666; 17403372
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D MIM#615947; familial chylomicronemia syndrome
Review for gene: GPIHBP1 was set to GREEN
gene: GPIHBP1 was marked as current diagnostic
Added comment: Well-established cause of familial chylomicronemia (see OMIM). Greater than 3 families reported and a supporting mouse model.
Sources: Expert list
Metabolic Disorders Superpanel v1.1 Bryony Thompson Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Porphyria; Vitamin C Pathway Disorders; Metabolic renal disease; Hyperlipidaemia
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Marked gene: AASS as ready
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Gene: aass has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Classified gene: AASS as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Gene: aass has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.98 MVK Crystle Lee reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29047407, 26409462; Phenotypes: Hyper-IgD syndrome (MIM#260920), Mevalonic aciduria (MIM#610377); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.1 AASS Bryony Thompson gene: AASS was added
gene: AASS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AASS were set to 23570448
Phenotypes for gene: AASS were set to Hyperlysinemia, MIM# 238700
Miscellaneous Metabolic Disorders v0.0 Bryony Thompson Added Panel Miscellaneous Metabolic Disorders
Set panel types to: Royal Melbourne Hospital; Rare Disease
Mendeliome v0.6104 AGO2 Zornitza Stark Phenotypes for gene: AGO2 were changed from Intellectual disability to Lessel-Kreienkamp syndrome (LESKRES), MIM#619149; Intellectual disability
Mendeliome v0.6103 AGO2 Zornitza Stark edited their review of gene: AGO2: Changed phenotypes: Lessel-Kreienkamp syndrome (LESKRES), MIM#619149, Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3403 AGO2 Zornitza Stark Phenotypes for gene: AGO2 were changed from Intellectual disability to Lessel-Kreienkamp syndrome (LESKRES), MIM#619149; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3402 AGO2 Zornitza Stark edited their review of gene: AGO2: Changed phenotypes: Lessel-Kreienkamp syndrome (LESKRES), MIM#619149, Intellectual disability
Hereditary Haemorrhagic Telangiectasia v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary Haemorrhagic Telangiectasia v0.15 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Hereditary Haemorrhagic Telangiectasia v0.15 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.15 SMAD4 Zornitza Stark Publications for gene: SMAD4 were set to
Hereditary Haemorrhagic Telangiectasia v0.14 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16613914; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Haemorrhagic Telangiectasia v0.14 EPHB4 Zornitza Stark Marked gene: EPHB4 as ready
Hereditary Haemorrhagic Telangiectasia v0.14 EPHB4 Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.14 EPHB4 Zornitza Stark Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation-2 to Capillary malformation-arteriovenous malformation-2, MIM# 618196
Hereditary Haemorrhagic Telangiectasia v0.13 EPHB4 Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Haemorrhagic Telangiectasia v0.12 EPHB4 Zornitza Stark reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 2, MIM# 618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Haemorrhagic Telangiectasia v0.12 ENG Zornitza Stark Marked gene: ENG as ready
Hereditary Haemorrhagic Telangiectasia v0.12 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.12 ENG Zornitza Stark reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metabolic Disorders Superpanel v1.0 Bryony Thompson Added Panel Metabolic Disorders Superpanel
Set child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Porphyria; Vitamin C Pathway Disorders; Metabolic renal disease
Set panel types to: Superpanel; Royal Melbourne Hospital; Rare Disease
Hereditary Haemorrhagic Telangiectasia v0.12 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Hereditary Haemorrhagic Telangiectasia v0.12 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.12 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Hereditary Haemorrhagic Telangiectasia v0.11 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v1.0 Zornitza Stark promoted panel to version 1.0
Haematuria_Alport v0.41 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Haematuria_Alport v0.41 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Haematuria_Alport v0.41 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Haematuria_Alport v0.40 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.39 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.39 COL4A3 Zornitza Stark Marked gene: COL4A3 as ready
Haematuria_Alport v0.39 COL4A3 Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence).
Haematuria_Alport v0.39 COL4A3 Zornitza Stark Phenotypes for gene: COL4A3 were changed from to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200
Haematuria_Alport v0.38 COL4A3 Zornitza Stark Mode of inheritance for gene: COL4A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haematuria_Alport v0.37 COL4A3 Zornitza Stark reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780, Alport syndrome 3, autosomal dominant, MIM# 104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.259 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Dystonia and Chorea v0.166 KIF1A Bryony Thompson Classified gene: KIF1A as Green List (high evidence)
Dystonia and Chorea v0.166 KIF1A Bryony Thompson Gene: kif1a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.165 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1A were set to 32096284; 32935419
Phenotypes for gene: KIF1A were set to Dystonia; spastic paraplegia; intellectual disability
Review for gene: KIF1A was set to GREEN
gene: KIF1A was marked as current diagnostic
Added comment: Dystonia was a feature of the phenotype in 4/10 cases with de novo or parental germline mosaic variants.
Sources: Literature
Ataxia v0.268 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Ataxia v0.268 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ataxia v0.268 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Ataxia v0.268 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ataxia v0.267 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ataxia as a feature of the condition. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3402 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Intellectual disability syndromic and non-syndromic v0.3402 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3402 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3402 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3401 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ID as a feature of the phenotype. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.43 SCN5A Tony Roscioli Classified gene: SCN5A as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.43 SCN5A Tony Roscioli Added comment: Comment on list classification: needs discussion as treatable
Incidentalome_PREGEN_DRAFT v0.43 SCN5A Tony Roscioli Gene: scn5a has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.42 SCN5A Tony Roscioli reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.42 SDHA Tony Roscioli Classified gene: SDHA as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.42 SDHA Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.42 SDHA Tony Roscioli Gene: sdha has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.41 SDHA Tony Roscioli reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.223 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Ciliopathies v0.223 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.41 SDHAF2 Tony Roscioli Classified gene: SDHAF2 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.41 SDHAF2 Tony Roscioli Added comment: Comment on list classification: probably limited to adult onset disease and so should be kept on this list - needs discussion
Incidentalome_PREGEN_DRAFT v0.41 SDHAF2 Tony Roscioli Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.40 SDHAF2 Tony Roscioli reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.223 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Ciliopathies v0.223 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.40 SDHB Tony Roscioli Classified gene: SDHB as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.40 SDHB Tony Roscioli Added comment: Comment on list classification: probably limited to adult onset disease and so should be kept on this list - needs discussion
Incidentalome_PREGEN_DRAFT v0.40 SDHB Tony Roscioli Gene: sdhb has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.39 SDHB Tony Roscioli reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.39 SDHC Tony Roscioli reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.222 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.39 SDHD Tony Roscioli Classified gene: SDHD as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.39 SDHD Tony Roscioli Added comment: Comment on list classification: may cause childhood onset disease
Incidentalome_PREGEN_DRAFT v0.39 SDHD Tony Roscioli Gene: sdhd has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.38 SDHD Tony Roscioli reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.38 SMAD3 Tony Roscioli Classified gene: SMAD3 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.38 SMAD3 Tony Roscioli Added comment: Comment on list classification: may cause childhood onset disease
Incidentalome_PREGEN_DRAFT v0.38 SMAD3 Tony Roscioli Gene: smad3 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.37 SMAD3 Tony Roscioli reviewed gene: SMAD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.37 SMAD4 Tony Roscioli Classified gene: SMAD4 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.37 SMAD4 Tony Roscioli Added comment: Comment on list classification: May cause Myhre syndrome but also adult cancer - needs discussion
Incidentalome_PREGEN_DRAFT v0.37 SMAD4 Tony Roscioli Gene: smad4 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.36 SMAD4 Tony Roscioli reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.36 SNCA Tony Roscioli reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.91 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.36 SNCB Tony Roscioli reviewed gene: SNCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.36 SQSTM1 Tony Roscioli Classified gene: SQSTM1 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.36 SQSTM1 Tony Roscioli Added comment: Comment on list classification: adult dementia but may also present in childhood - needs discussion
Incidentalome_PREGEN_DRAFT v0.36 SQSTM1 Tony Roscioli Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.35 SQSTM1 Tony Roscioli reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.35 SRD5A2 Tony Roscioli Classified gene: SRD5A2 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.35 SRD5A2 Tony Roscioli Added comment: Comment on list classification: Needs discussion due to clinical features
Incidentalome_PREGEN_DRAFT v0.35 SRD5A2 Tony Roscioli Gene: srd5a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6103 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Mendeliome v0.6103 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Mendeliome v0.6103 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Mendeliome v0.6103 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.34 SRD5A2 Tony Roscioli Marked gene: SRD5A2 as ready
Incidentalome_PREGEN_DRAFT v0.34 SRD5A2 Tony Roscioli Gene: srd5a2 has been classified as Green List (High Evidence).
Mendeliome v0.6102 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.34 SRD5A2 Tony Roscioli reviewed gene: SRD5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.34 STAT5B Tony Roscioli Classified gene: STAT5B as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.34 STAT5B Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.34 STAT5B Tony Roscioli Gene: stat5b has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.33 STAT5B Tony Roscioli reviewed gene: STAT5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.33 STK11 Tony Roscioli Classified gene: STK11 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.33 STK11 Tony Roscioli Added comment: Comment on list classification: may present in younger adulthood - needs discussion
Incidentalome_PREGEN_DRAFT v0.33 STK11 Tony Roscioli Gene: stk11 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.32 STK11 Tony Roscioli reviewed gene: STK11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.32 SUFU Tony Roscioli Classified gene: SUFU as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.32 SUFU Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.32 SUFU Tony Roscioli Gene: sufu has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.31 SUFU Tony Roscioli reviewed gene: SUFU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.31 TACC1 Tony Roscioli Classified gene: TACC1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.31 TACC1 Tony Roscioli Gene: tacc1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.30 TACC1 Tony Roscioli reviewed gene: TACC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.30 TACC3 Tony Roscioli Classified gene: TACC3 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.30 TACC3 Tony Roscioli Added comment: Comment on list classification: not a clear cause of Mendelian disease
Incidentalome_PREGEN_DRAFT v0.30 TACC3 Tony Roscioli Gene: tacc3 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.29 TACC3 Tony Roscioli reviewed gene: TACC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.29 TAF15 Tony Roscioli Classified gene: TAF15 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.29 TAF15 Tony Roscioli Added comment: Comment on list classification: not clearly a cause of germline inherited disease
Incidentalome_PREGEN_DRAFT v0.29 TAF15 Tony Roscioli Gene: taf15 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.28 TARDBP Tony Roscioli Marked gene: TARDBP as ready
Incidentalome_PREGEN_DRAFT v0.28 TARDBP Tony Roscioli Added comment: Comment when marking as ready: Adult onset neurological condition - should be kept on this list
Incidentalome_PREGEN_DRAFT v0.28 TARDBP Tony Roscioli Gene: tardbp has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Marked gene: TBL1XR1 as ready
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Gene: tbl1xr1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Classified gene: TBL1XR1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Gene: tbl1xr1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Marked gene: TFG as ready
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Added comment: Comment when marking as ready: may present in childhood
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Gene: tfg has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Classified gene: TFG as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Gene: tfg has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.26 TFG Tony Roscioli edited their review of gene: TFG: Added comment: may present in childhood; Changed rating: RED
Incidentalome_PREGEN_DRAFT v0.26 TGFBR1 Tony Roscioli Classified gene: TGFBR1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.26 TGFBR1 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.26 TGFBR1 Tony Roscioli Gene: tgfbr1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.25 TGFBR2 Tony Roscioli Classified gene: TGFBR2 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.25 TGFBR2 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.25 TGFBR2 Tony Roscioli Gene: tgfbr2 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.24 TGFBR2 Tony Roscioli edited their review of gene: TGFBR2: Added comment: may present in childhood; Changed rating: RED
Incidentalome_PREGEN_DRAFT v0.24 TNNI3 Tony Roscioli Classified gene: TNNI3 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.24 TNNI3 Tony Roscioli Added comment: Comment on list classification: Disease has been observed in childhood
Incidentalome_PREGEN_DRAFT v0.24 TNNI3 Tony Roscioli Gene: tnni3 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.23 TNNT2 Tony Roscioli Classified gene: TNNT2 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.23 TNNT2 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.23 TNNT2 Tony Roscioli Gene: tnnt2 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.22 TREM2 Tony Roscioli Classified gene: TREM2 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.22 TREM2 Tony Roscioli Added comment: Comment on list classification: Neurological symptoms appear not to present in childhood - needs review for a final decision
Incidentalome_PREGEN_DRAFT v0.22 TREM2 Tony Roscioli Gene: trem2 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.21 TET2 Tony Roscioli Classified gene: TET2 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.21 TET2 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.21 TET2 Tony Roscioli Gene: tet2 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.20 TCF12 Tony Roscioli Classified gene: TCF12 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.20 TCF12 Tony Roscioli Gene: tcf12 has been classified as Red List (Low Evidence).
Mendeliome v0.6101 ZMYND15 Bryony Thompson Marked gene: ZMYND15 as ready
Mendeliome v0.6101 ZMYND15 Bryony Thompson Gene: zmynd15 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.19 TCF12 Tony Roscioli reviewed gene: TCF12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TET2 Tony Roscioli reviewed gene: TET2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TFG Tony Roscioli reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TGFBR1 Tony Roscioli reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TGFBR2 Tony Roscioli reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TMEM43 Tony Roscioli Classified gene: TMEM43 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.19 TMEM43 Tony Roscioli Added comment: Comment on list classification: unclear whether disease presents in childhood - needs review
Incidentalome_PREGEN_DRAFT v0.19 TMEM43 Tony Roscioli Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6101 ZMYND15 Bryony Thompson Classified gene: ZMYND15 as Green List (high evidence)
Mendeliome v0.6101 ZMYND15 Bryony Thompson Gene: zmynd15 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.18 TNNI3 Tony Roscioli reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6100 ZMYND15 Bryony Thompson gene: ZMYND15 was added
gene: ZMYND15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZMYND15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMYND15 were set to 24431330; 33169450; 20675388
Phenotypes for gene: ZMYND15 were set to Severe oligozoospermia
Review for gene: ZMYND15 was set to GREEN
Added comment: 4 unrelated consanguineous cases with homozygous loss of function variants. Zmynd15-null male mice display reduced testis weight and azoospermia
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.18 TNNT2 Tony Roscioli reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.18 TP53 Tony Roscioli Classified gene: TP53 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.18 TP53 Tony Roscioli Added comment: Comment on list classification: Needs discussion - could be removed as early age of onset possible
Incidentalome_PREGEN_DRAFT v0.18 TP53 Tony Roscioli Gene: tp53 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.17 TPM1 Tony Roscioli Classified gene: TPM1 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.17 TPM1 Tony Roscioli Added comment: Comment on list classification: May cause a treatable cardiomyopathy - should be reviewed for exclusion
Incidentalome_PREGEN_DRAFT v0.17 TPM1 Tony Roscioli Gene: tpm1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.16 TPR Tony Roscioli Classified gene: TPR as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.16 TPR Tony Roscioli Gene: tpr has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.15 TPR Tony Roscioli reviewed gene: TPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.15 TREM2 Tony Roscioli reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.15 TRIM24 Tony Roscioli Classified gene: TRIM24 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.15 TRIM24 Tony Roscioli Gene: trim24 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.14 TRIM24 Tony Roscioli Marked gene: TRIM24 as ready
Incidentalome_PREGEN_DRAFT v0.14 TRIM24 Tony Roscioli Gene: trim24 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.14 TRIM24 Tony Roscioli changed review comment from: Not a known Mendelian disease gene; to: Not a known Mendelian disease gene
Incidentalome_PREGEN_DRAFT v0.14 TRIM24 Tony Roscioli reviewed gene: TRIM24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ichthyosis and Porokeratosis v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.6099 PNPLA1 Zornitza Stark Marked gene: PNPLA1 as ready
Mendeliome v0.6099 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Mendeliome v0.6099 PNPLA1 Zornitza Stark Phenotypes for gene: PNPLA1 were changed from to Ichthyosis, congenital, autosomal recessive 10, MIM# 615024
Mendeliome v0.6098 PNPLA1 Zornitza Stark Publications for gene: PNPLA1 were set to
Mendeliome v0.6097 PNPLA1 Zornitza Stark Mode of inheritance for gene: PNPLA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6096 PNPLA1 Zornitza Stark reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246504, 24344921, 26691440; Phenotypes: Ichthyosis, congenital, autosomal recessive 10, MIM# 615024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.123 PNPLA1 Zornitza Stark Marked gene: PNPLA1 as ready
Ichthyosis and Porokeratosis v0.123 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.123 PNPLA1 Zornitza Stark Phenotypes for gene: PNPLA1 were changed from to Ichthyosis, congenital, autosomal recessive 10, MIM# 615024
Ichthyosis and Porokeratosis v0.122 PNPLA1 Zornitza Stark Publications for gene: PNPLA1 were set to
Ichthyosis and Porokeratosis v0.121 PNPLA1 Zornitza Stark Mode of inheritance for gene: PNPLA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.120 PNPLA1 Zornitza Stark reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246504, 24344921, 26691440; Phenotypes: Ichthyosis, congenital, autosomal recessive 10, MIM# 615024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.120 STS Zornitza Stark edited their review of gene: STS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis and Porokeratosis v0.120 STS Zornitza Stark Marked gene: STS as ready
Ichthyosis and Porokeratosis v0.120 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.120 STS Zornitza Stark Phenotypes for gene: STS were changed from to Ichthyosis, X-linked, MIM# 308100
Ichthyosis and Porokeratosis v0.119 STS Zornitza Stark Mode of inheritance for gene: STS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis and Porokeratosis v0.118 STS Zornitza Stark Tag SV/CNV tag was added to gene: STS.
Ichthyosis and Porokeratosis v0.118 STS Zornitza Stark reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, X-linked, MIM# 308100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Marked gene: TMEM251 as ready
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6096 TMEM251 Bryony Thompson Marked gene: TMEM251 as ready
Mendeliome v0.6096 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Classified gene: TMEM251 as Amber List (moderate evidence)
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.76 TMEM251 Bryony Thompson gene: TMEM251 was added
gene: TMEM251 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex‐like skeletal dysplasia; severe short stature
Review for gene: TMEM251 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous variants (c.133C>T; p.Arg45Trp and c.215dupA; p.Tyr72Ter), with co-segregation data in one family. Preliminary in vitro functional assays conducted - Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes.
Sources: Literature
Mendeliome v0.6096 TMEM251 Bryony Thompson Classified gene: TMEM251 as Amber List (moderate evidence)
Mendeliome v0.6096 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6095 TMEM251 Bryony Thompson gene: TMEM251 was added
gene: TMEM251 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex‐like skeletal dysplasia; severe short stature
Review for gene: TMEM251 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous variants (c.133C>T; p.Arg45Trp and c.215dupA; p.Tyr72Ter), with co-segregation data in one family. Preliminary in vitro functional assays conducted - Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes.
Sources: Literature
Mendeliome v0.6094 LOR Zornitza Stark Marked gene: LOR as ready
Mendeliome v0.6094 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Mendeliome v0.6094 LOR Zornitza Stark Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, MIM# 604117
Mendeliome v0.6093 LOR Zornitza Stark Publications for gene: LOR were set to
Mendeliome v0.6092 LOR Zornitza Stark Mode of inheritance for gene: LOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6091 LOR Zornitza Stark reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673107, 9326398, 9326323, 25234742, 25142840; Phenotypes: Vohwinkel syndrome with ichthyosis, MIM# 604117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.118 LOR Zornitza Stark Marked gene: LOR as ready
Ichthyosis and Porokeratosis v0.118 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.118 LOR Zornitza Stark Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, MIM# 604117
Ichthyosis and Porokeratosis v0.117 LOR Zornitza Stark Publications for gene: LOR were set to
Ichthyosis and Porokeratosis v0.116 LOR Zornitza Stark Mode of inheritance for gene: LOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.115 LOR Zornitza Stark reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673107, 9326398, 9326323, 25234742, 25142840; Phenotypes: Vohwinkel syndrome with ichthyosis, MIM# 604117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.115 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Ichthyosis and Porokeratosis v0.115 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.115 KRT10 Zornitza Stark Phenotypes for gene: KRT10 were changed from to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis with confetti, MIM# 609165
Ichthyosis and Porokeratosis v0.114 KRT10 Zornitza Stark Mode of inheritance for gene: KRT10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.113 KRT10 Zornitza Stark reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis with confetti, MIM# 609165; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.113 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Ichthyosis and Porokeratosis v0.113 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.113 KRT1 Zornitza Stark Phenotypes for gene: KRT1 were changed from to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590
Ichthyosis and Porokeratosis v0.112 KRT1 Zornitza Stark Mode of inheritance for gene: KRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.111 KRT1 Zornitza Stark reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6091 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Mendeliome v0.6091 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Green List (High Evidence).
Mendeliome v0.6091 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Mendeliome v0.6090 CYP4F22 Zornitza Stark Publications for gene: CYP4F22 were set to
Mendeliome v0.6089 CYP4F22 Zornitza Stark Mode of inheritance for gene: CYP4F22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6088 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: 16436457; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.111 CYP4F22 Zornitza Stark edited their review of gene: CYP4F22: Changed phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Ichthyosis and Porokeratosis v0.111 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Ichthyosis and Porokeratosis v0.111 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.111 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Ichthyosis and Porokeratosis v0.110 CYP4F22 Zornitza Stark Publications for gene: CYP4F22 were set to
Ichthyosis and Porokeratosis v0.109 CYP4F22 Zornitza Stark Mode of inheritance for gene: CYP4F22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.108 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: 16436457; Phenotypes: chthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6088 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Mendeliome v0.6088 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Mendeliome v0.6088 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
Mendeliome v0.6087 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Mendeliome v0.6086 CERS3 Zornitza Stark Mode of inheritance for gene: CERS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6085 CERS3 Zornitza Stark reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.108 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Ichthyosis and Porokeratosis v0.108 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.108 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
Ichthyosis and Porokeratosis v0.107 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Ichthyosis and Porokeratosis v0.106 CERS3 Zornitza Stark Mode of inheritance for gene: CERS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.105 CERS3 Zornitza Stark reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6085 ALOX12B Zornitza Stark Deleted their comment
Mendeliome v0.6085 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Mendeliome v0.6085 ALOX12B Zornitza Stark Gene: alox12b has been classified as Green List (High Evidence).
Mendeliome v0.6085 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Mendeliome v0.6084 ALOX12B Zornitza Stark Publications for gene: ALOX12B were set to
Mendeliome v0.6083 ALOX12B Zornitza Stark Mode of inheritance for gene: ALOX12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6082 ALOX12B Zornitza Stark commented on gene: ALOX12B: Well established gene-disease association.
Mendeliome v0.6082 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.105 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Ichthyosis and Porokeratosis v0.105 ALOX12B Zornitza Stark Gene: alox12b has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.105 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Ichthyosis and Porokeratosis v0.104 ALOX12B Zornitza Stark Publications for gene: ALOX12B were set to
Ichthyosis and Porokeratosis v0.103 ALOX12B Zornitza Stark Mode of inheritance for gene: ALOX12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.102 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004]; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.15 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Renal Glomerular Disease_SuperPanel v0.217 Bryony Thompson Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital
Congenital Stationary Night Blindness v0.8 GPR179 Zornitza Stark Marked gene: GPR179 as ready
Congenital Stationary Night Blindness v0.8 GPR179 Zornitza Stark Gene: gpr179 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.8 GPR179 Zornitza Stark Publications for gene: GPR179 were set to
Congenital Stationary Night Blindness v0.7 GPR179 Kristin Rigbye reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Frontonasal dysplasia v1.0 Zornitza Stark promoted panel to version 1.0
Frontonasal dysplasia v0.20 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Frontonasal dysplasia v0.20 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.20 EFNB1 Zornitza Stark Classified gene: EFNB1 as Green List (high evidence)
Frontonasal dysplasia v0.20 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.19 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Frontonasal dysplasia. Sources: Expert list
Mode of inheritance for gene: EFNB1 was set to Other
Publications for gene: EFNB1 were set to 15166289
Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, MIM# 304110
Review for gene: EFNB1 was set to GREEN
Added comment: XLD. More than 20 families reported.

Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism.
Sources: Expert list
Frontonasal dysplasia v0.18 SPECC1L Zornitza Stark Marked gene: SPECC1L as ready
Frontonasal dysplasia v0.18 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.18 SPECC1L Zornitza Stark Phenotypes for gene: SPECC1L were changed from to Opitz GBBB syndrome, type II, MIM# 145410; Hypertelorism, Teebi type, MIM# 145420
Frontonasal dysplasia v0.17 SPECC1L Zornitza Stark Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Frontonasal dysplasia v0.16 SPECC1L Zornitza Stark reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Opitz GBBB syndrome, type II, MIM# 145410, Hypertelorism, Teebi type, MIM# 145420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Frontonasal dysplasia v0.16 MID1 Zornitza Stark Marked gene: MID1 as ready
Frontonasal dysplasia v0.16 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.16 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I, MIM# 300000
Frontonasal dysplasia v0.15 MID1 Zornitza Stark Mode of inheritance for gene: MID1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Frontonasal dysplasia v0.14 MID1 Zornitza Stark reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Opitz GBBB syndrome, type I, MIM# 300000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Frontonasal dysplasia v0.14 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Frontonasal dysplasia v0.14 ALX4 Zornitza Stark Gene: alx4 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.14 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451
Frontonasal dysplasia v0.13 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Frontonasal dysplasia v0.12 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Frontonasal dysplasia v0.11 ALX4 Zornitza Stark reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19692347, 22140057, 24668755, 32216639, 31914496, 29681084; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6082 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Mendeliome v0.6082 ALX3 Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence).
Mendeliome v0.6082 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM#136760
Mendeliome v0.6081 ALX3 Zornitza Stark Publications for gene: ALX3 were set to
Mendeliome v0.6080 ALX3 Zornitza Stark Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6079 ALX3 Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype.
Sources: Expert list; to: Well established gene-disease association.
Sources: Expert list
Frontonasal dysplasia v0.11 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Frontonasal dysplasia v0.11 ALX3 Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.11 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM# 136760
Frontonasal dysplasia v0.10 ALX3 Zornitza Stark Publications for gene: ALX3 were set to
Frontonasal dysplasia v0.9 ALX3 Zornitza Stark Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Frontonasal dysplasia v0.8 ALX3 Zornitza Stark edited their review of gene: ALX3: Added comment: Well established gene-disease association.; Changed publications: 19409524
Frontonasal dysplasia v0.8 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Frontonasal dysplasia v0.7 ALX3 Zornitza Stark reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 1, MIM# 136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6079 ALX1 Zornitza Stark Marked gene: ALX1 as ready
Mendeliome v0.6079 ALX1 Zornitza Stark Gene: alx1 has been classified as Green List (High Evidence).
Mendeliome v0.6079 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456
Mendeliome v0.6078 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Mendeliome v0.6077 ALX1 Zornitza Stark Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6076 ALX1 Zornitza Stark reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Frontonasal dysplasia v0.7 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456
Frontonasal dysplasia v0.6 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Frontonasal dysplasia v0.5 ALX1 Zornitza Stark Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v1.0 Zornitza Stark promoted panel to version 1.0
Lissencephaly and Band Heterotopia v1.0 Zornitza Stark promoted panel to version 1.0
Cobblestone Malformations v0.31 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Cobblestone Malformations v0.31 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.31 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150
Cobblestone Malformations v0.30 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.29 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.29 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Cobblestone Malformations v0.29 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.29 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Cobblestone Malformations v0.28 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.27 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.27 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Cobblestone Malformations v0.27 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.27 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830
Cobblestone Malformations v0.26 POMGNT2 Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.25 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.25 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Cobblestone Malformations v0.25 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.25 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280
Cobblestone Malformations v0.24 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.23 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.159 ADAR Zornitza Stark Marked gene: ADAR as ready
Hereditary Spastic Paraplegia v0.159 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.159 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 to Aicardi-Goutieres syndrome 6, 615010 autosomal recessive
Hereditary Spastic Paraplegia v0.158 ADAR Zornitza Stark reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.6 POFUT1 Zornitza Stark Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)
Congenital Disorders of Glycosylation v1.5 POFUT1 Zornitza Stark Publications for gene: POFUT1 were set to
Congenital Disorders of Glycosylation v1.4 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events to Glycosylphosphatidylinositol deficiency, MIM# 610293; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Congenital Disorders of Glycosylation v1.3 PIGM Zornitza Stark reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol deficiency, MIM# 610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.3 GMPPA Zornitza Stark Phenotypes for gene: GMPPA were changed from to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Congenital Disorders of Glycosylation v1.2 GMPPA Zornitza Stark Publications for gene: GMPPA were set to
Congenital Disorders of Glycosylation v1.1 GALNT2 Zornitza Stark Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIt, MIM# 618885
Congenital Disorders of Glycosylation v1.0 GALNT2 Zornitza Stark edited their review of gene: GALNT2: Changed phenotypes: Congenital disorder of glycosylation, type IIt, MIM# 618885
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.22 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Cobblestone Malformations. Sources: Literature
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA2 were set to 32827036
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Review for gene: LAMA2 was set to GREEN
Added comment: Variants in this gene are associated with a range of cortical malformations in addition to the muscle phenotype. Four individuals reported with cobblestone malformations, though note in one individual MRI was normal and the abnormalities were identified on autopsy.
Sources: Literature
Cobblestone Malformations v0.21 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Cobblestone Malformations v0.21 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.21 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
Cobblestone Malformations v0.20 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.19 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.19 FKTN Zornitza Stark Marked gene: FKTN as ready
Cobblestone Malformations v0.19 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Cobblestone Malformations v0.19 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800
Cobblestone Malformations v0.18 FKTN Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.17 FKTN Zornitza Stark reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.17 FKRP Zornitza Stark Marked gene: FKRP as ready
Cobblestone Malformations v0.17 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Cobblestone Malformations v0.17 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153
Cobblestone Malformations v0.16 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.15 FKRP Zornitza Stark reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3400 LAMB1 Zornitza Stark Marked gene: LAMB1 as ready
Intellectual disability syndromic and non-syndromic v0.3400 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3400 LAMB1 Zornitza Stark Phenotypes for gene: LAMB1 were changed from to Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy
Intellectual disability syndromic and non-syndromic v0.3399 LAMB1 Zornitza Stark Publications for gene: LAMB1 were set to
Intellectual disability syndromic and non-syndromic v0.3398 LAMB1 Zornitza Stark Mode of inheritance for gene: LAMB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3397 LAMB1 Zornitza Stark reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759, 25925986, 29888467, 25925986; Phenotypes: Lissencephaly 5, MIM# 615191, Cystic leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Marked gene: LAMB1 as ready
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Classified gene: LAMB1 as Green List (high evidence)
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.14 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Cobblestone Malformations. Sources: Expert Review
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB1 were set to 23472759; 25925986
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, MIM# 615191
Review for gene: LAMB1 was set to GREEN
Added comment: Variants in this gene are associated with a range of brain phenotypes, but three families reported with cobblestone lissencephaly, without muscular or ocular findings.
Sources: Expert Review
Cobblestone Malformations v0.14 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Cobblestone Malformations. Sources: Expert Review
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB1 were set to 23472759; 25925986
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, MIM# 615191
Review for gene: LAMB1 was set to GREEN
Added comment: Variants in this gene are associated with a range of brain phenotypes, but three families reported with cobblestone lissencephaly, without muscular or ocular findings.
Sources: Expert Review
Overgrowth v1.0 Zornitza Stark promoted panel to version 1.0
Overgrowth v0.96 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Overgrowth v0.96 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.96 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Overgrowth v0.95 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Overgrowth v0.94 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.93 OFD1 Zornitza Stark Classified gene: OFD1 as Amber List (moderate evidence)
Overgrowth v0.93 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.92 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16783569, 27589329; Phenotypes: Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3397 HIST1H1E Zornitza Stark Marked gene: HIST1H1E as ready
Intellectual disability syndromic and non-syndromic v0.3397 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3397 HIST1H1E Zornitza Stark Phenotypes for gene: HIST1H1E were changed from to Rahman syndrome, MIM# 617537
Intellectual disability syndromic and non-syndromic v0.3396 HIST1H1E Zornitza Stark Publications for gene: HIST1H1E were set to
Intellectual disability syndromic and non-syndromic v0.3395 HIST1H1E Zornitza Stark Mode of inheritance for gene: HIST1H1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3394 HIST1H1E Zornitza Stark reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475857, 33270410, 31910894, 31400068; Phenotypes: Rahman syndrome, MIM# 617537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6076 HIST1H1E Zornitza Stark Marked gene: HIST1H1E as ready
Mendeliome v0.6076 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Mendeliome v0.6076 HIST1H1E Zornitza Stark Phenotypes for gene: HIST1H1E were changed from to Rahman syndrome, MIM# 617537
Overgrowth v0.92 HIST1H1E Zornitza Stark Marked gene: HIST1H1E as ready
Overgrowth v0.92 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Mendeliome v0.6075 HIST1H1E Zornitza Stark Publications for gene: HIST1H1E were set to
Overgrowth v0.92 HIST1H1E Zornitza Stark Phenotypes for gene: HIST1H1E were changed from to Rahman syndrome, MIM# 617537
Mendeliome v0.6074 HIST1H1E Zornitza Stark Mode of inheritance for gene: HIST1H1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6073 HIST1H1E Zornitza Stark reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475857, 33270410, 31910894, 31400068; Phenotypes: Rahman syndrome, MIM# 617537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.91 HIST1H1E Zornitza Stark Publications for gene: HIST1H1E were set to
Overgrowth v0.90 HIST1H1E Zornitza Stark Mode of inheritance for gene: HIST1H1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.89 HIST1H1E Zornitza Stark reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475857, 33270410, 31910894, 31400068; Phenotypes: Rahman syndrome, MIM# 617537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.89 MTOR Zornitza Stark Publications for gene: MTOR were set to
Overgrowth v0.88 MTOR Zornitza Stark edited their review of gene: MTOR: Changed publications: 27830187
Overgrowth v0.88 MTOR Zornitza Stark Marked gene: MTOR as ready
Overgrowth v0.88 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Overgrowth v0.88 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638
Overgrowth v0.87 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.86 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.86 PTEN Zornitza Stark Marked gene: PTEN as ready
Overgrowth v0.86 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Overgrowth v0.86 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309
Overgrowth v0.85 PTEN Zornitza Stark Publications for gene: PTEN were set to
Overgrowth v0.84 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.83 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31433956, 31609537; Phenotypes: Cowden syndrome 1, MIM# 158350, Macrocephaly/autism syndrome, MIM# 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.83 NFIX Zornitza Stark Marked gene: NFIX as ready
Overgrowth v0.83 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Overgrowth v0.83 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from to Sotos syndrome 2, MIM# 614753; Malan syndrome
Overgrowth v0.82 NFIX Zornitza Stark Publications for gene: NFIX were set to 33034087; 29897170; 30548146; 25118028
Overgrowth v0.81 NFIX Zornitza Stark Publications for gene: NFIX were set to 33034087; 29897170; 30548146; 25118028
Overgrowth v0.81 NFIX Zornitza Stark Publications for gene: NFIX were set to
Overgrowth v0.80 NFIX Zornitza Stark Mode of inheritance for gene: NFIX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.79 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2, MIM# 614753, Malan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.79 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Overgrowth v0.79 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Overgrowth v0.79 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1, MIM# 117550
Overgrowth v0.78 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.77 NSD1 Zornitza Stark Tag SV/CNV tag was added to gene: NSD1.
Overgrowth v0.77 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.77 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Overgrowth v0.77 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Overgrowth v0.77 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Overgrowth v0.76 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.75 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6073 EED Zornitza Stark Marked gene: EED as ready
Mendeliome v0.6073 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Mendeliome v0.6073 EED Zornitza Stark Phenotypes for gene: EED were changed from to Cohen-Gibson syndrome, MIM# 617561
Mendeliome v0.6072 EED Zornitza Stark Publications for gene: EED were set to
Mendeliome v0.6071 EED Zornitza Stark Mode of inheritance for gene: EED was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6070 EED Zornitza Stark reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: 25787343, 27193220, 27868325, 28229514; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3394 EED Zornitza Stark Marked gene: EED as ready
Intellectual disability syndromic and non-syndromic v0.3394 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3394 EED Zornitza Stark Phenotypes for gene: EED were changed from to Cohen-Gibson syndrome, MIM# 617561
Intellectual disability syndromic and non-syndromic v0.3393 EED Zornitza Stark Publications for gene: EED were set to
Intellectual disability syndromic and non-syndromic v0.3392 EED Zornitza Stark Mode of inheritance for gene: EED was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3391 EED Zornitza Stark reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: 25787343, 27193220, 27868325, 28229514; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.75 EED Zornitza Stark Marked gene: EED as ready
Overgrowth v0.75 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Overgrowth v0.75 EED Zornitza Stark Phenotypes for gene: EED were changed from to Cohen-Gibson syndrome, MIM# 617561
Overgrowth v0.74 EED Zornitza Stark Publications for gene: EED were set to
Overgrowth v0.73 EED Zornitza Stark Mode of inheritance for gene: EED was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.72 EED Zornitza Stark reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: 25787343, 27193220, 27868325, 28229514; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.72 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Overgrowth v0.72 CHD8 Zornitza Stark Gene: chd8 has been classified as Green List (High Evidence).
Overgrowth v0.72 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome
Overgrowth v0.71 CHD8 Zornitza Stark Publications for gene: CHD8 were set to
Overgrowth v0.70 CHD8 Zornitza Stark Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.69 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.69 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Overgrowth v0.69 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Overgrowth v0.69 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to Beckwith-Wiedemann syndrome, MIM# 130650
Overgrowth v0.68 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Overgrowth v0.67 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Overgrowth v0.67 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Overgrowth v0.67 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.67 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from to Mental retardation, X-linked 93, MIM# 300659
Overgrowth v0.66 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Overgrowth v0.65 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.64 BRWD3 Zornitza Stark Classified gene: BRWD3 as Amber List (moderate evidence)
Overgrowth v0.64 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.63 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17668385; Phenotypes: Mental retardation, X-linked 93, MIM# 300659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.61 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pancreatitis v1.0 Zornitza Stark promoted panel to version 1.0
Skeletal Muscle Channelopathies v1.0 Zornitza Stark promoted panel to version 1.0
Skeletal Muscle Channelopathies v0.24 KCNJ18 Zornitza Stark Marked gene: KCNJ18 as ready
Skeletal Muscle Channelopathies v0.24 KCNJ18 Zornitza Stark Gene: kcnj18 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.24 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Skeletal Muscle Channelopathies v0.24 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.24 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; Andersen syndrome, MIM# 170390; Episodic weakness; Andersen syndrome
Skeletal Muscle Channelopathies v0.23 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Skeletal Muscle Channelopathies v0.22 KCNJ2 Zornitza Stark reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11371347, 12796536; Phenotypes: Andersen syndrome, MIM# 170390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v0.22 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Skeletal Muscle Channelopathies v0.22 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.22 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Skeletal Muscle Channelopathies v0.21 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from to Other
Skeletal Muscle Channelopathies v0.20 KCNA1 Zornitza Stark Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6070 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Mendeliome v0.6070 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Green List (High Evidence).
Mendeliome v0.6070 CLCN1 Zornitza Stark Phenotypes for gene: CLCN1 were changed from to Myotonia congenita, dominant 160800; Myotonia congenita, recessive 255700
Mendeliome v0.6069 CLCN1 Zornitza Stark Publications for gene: CLCN1 were set to
Mendeliome v0.6068 CLCN1 Zornitza Stark Mode of inheritance for gene: CLCN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6067 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1379744, 7981750, 8533761; Phenotypes: Myotonia congenita, dominant 160800, Myotonia congenita, recessive 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Publications for gene: CLCN1 were set to
Skeletal Muscle Channelopathies v0.18 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1379744, 7981750, 8533761; Phenotypes: Myotonia congenita, dominant 160800, Myotonia congenita, recessive 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies v0.18 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Skeletal Muscle Channelopathies v0.18 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.18 CACNA1S Zornitza Stark Publications for gene: CACNA1S were set to
Skeletal Muscle Channelopathies v0.17 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 8004673, 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Stickler Syndrome v0.19 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Stickler Syndrome v0.19 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Stickler Syndrome v0.19 COL9A2 Zornitza Stark Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V, MIM# 614284
Stickler Syndrome v0.18 COL9A2 Zornitza Stark Publications for gene: COL9A2 were set to
Stickler Syndrome v0.17 COL9A2 Zornitza Stark Mode of inheritance for gene: COL9A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Stickler Syndrome v0.16 COL9A2 Zornitza Stark reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stickler Syndrome v0.16 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Stickler Syndrome v0.16 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Stickler Syndrome v0.16 COL9A1 Zornitza Stark Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM# 614134
Stickler Syndrome v0.15 COL9A1 Zornitza Stark Publications for gene: COL9A1 were set to
Stickler Syndrome v0.14 COL9A1 Zornitza Stark Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Stickler Syndrome v0.13 COL9A1 Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909383, 21421862, 31090205; Phenotypes: Stickler syndrome, type IV, MIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stickler Syndrome v0.13 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Stickler Syndrome v0.13 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Stickler Syndrome v0.13 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Stickler syndrome, type I, MIM# 108300
Stickler Syndrome v0.12 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.11 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I, MIM# 108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.11 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Stickler Syndrome v0.11 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Stickler Syndrome v0.11 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from to Stickler syndrome type 3
Stickler Syndrome v0.10 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to
Stickler Syndrome v0.9 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.8 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25240749, 22796475, 20112039; Phenotypes: Stickler syndrome type 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.8 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Stickler Syndrome v0.8 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Stickler Syndrome v0.8 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from to Stickler syndrome, type II, MIM# 604841, MONDO:0011493
Stickler Syndrome v0.7 COL11A1 Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.6 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841, MONDO:0011493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v1.0 Zornitza Stark promoted panel to version 1.0
Renal Tubulointerstitial Disease v0.29 UMOD Zornitza Stark Marked gene: UMOD as ready
Renal Tubulointerstitial Disease v0.29 UMOD Zornitza Stark Gene: umod has been classified as Green List (High Evidence).
Renal Tubulointerstitial Disease v0.29 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from to Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD); Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Medullary cystic kidney disease 2, MIM# 603860
Renal Tubulointerstitial Disease v0.28 UMOD Zornitza Stark Publications for gene: UMOD were set to
Renal Tubulointerstitial Disease v0.27 UMOD Zornitza Stark Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v0.26 UMOD Zornitza Stark reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32954071, 32847529, 32450155; Phenotypes: Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD), Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886, Medullary cystic kidney disease 2, MIM# 603860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 MTOR Zornitza Stark Marked gene: MTOR as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.38 MTOR Zornitza Stark Publications for gene: MTOR were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.37 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.36 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892148; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.36 Zornitza Stark Panel name changed from Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.35 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.35 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.35 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.34 AKT3 Zornitza Stark Mode of pathogenicity for gene: AKT3 was changed from to Other
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.33 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.32 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.31 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22729224, 22729223, 32446860, 31441589; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.31 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.6067 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Mendeliome v0.6067 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Mendeliome v0.6067 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Mendeliome v0.6066 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Mendeliome v0.6065 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6064 TUBG1 Zornitza Stark reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 31086189; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6064 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Mendeliome v0.6064 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Mendeliome v0.6064 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638
Mendeliome v0.6063 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Mendeliome v0.6062 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6061 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778, 20074521; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039, Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6061 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Mendeliome v0.6061 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Mendeliome v0.6061 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Mendeliome v0.6060 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Mendeliome v0.6059 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6058 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901, 26732629, 33082561; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6058 TUBB Zornitza Stark Marked gene: TUBB as ready
Mendeliome v0.6058 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Mendeliome v0.6058 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Mendeliome v0.6057 TUBB Zornitza Stark Publications for gene: TUBB were set to
Mendeliome v0.6056 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6055 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003, 32085672; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v1.0 Zornitza Stark promoted panel to version 1.0
Tubulinopathies v0.28 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Tubulinopathies v0.28 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Tubulinopathies v0.28 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Tubulinopathies v0.27 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Tubulinopathies v0.26 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.25 TUBG1 Zornitza Stark reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 31086189; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.25 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Tubulinopathies v0.25 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Tubulinopathies v0.25 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Tubulinopathies v0.24 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Tubulinopathies v0.23 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.22 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.22 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Tubulinopathies v0.22 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Tubulinopathies v0.22 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Tubulinopathies v0.21 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Tubulinopathies v0.20 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.19 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901, 26732629, 33082561; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.19 TUBB Zornitza Stark Marked gene: TUBB as ready
Tubulinopathies v0.19 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Tubulinopathies v0.19 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Tubulinopathies v0.18 TUBB Zornitza Stark Publications for gene: TUBB were set to
Tubulinopathies v0.17 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.16 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003, 32085672; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.16 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.15 TUBA1A Zornitza Stark reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17218254, 17584854, 18728072; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.14 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Vitreoretinopathy v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.6055 FZD4 Zornitza Stark Marked gene: FZD4 as ready
Mendeliome v0.6055 FZD4 Zornitza Stark Gene: fzd4 has been classified as Green List (High Evidence).
Mendeliome v0.6055 FZD4 Zornitza Stark Phenotypes for gene: FZD4 were changed from to Exudative vitreoretinopathy 1, MIM# 133780
Mendeliome v0.6054 FZD4 Zornitza Stark Publications for gene: FZD4 were set to
Mendeliome v0.6053 FZD4 Zornitza Stark Mode of inheritance for gene: FZD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6052 FZD4 Zornitza Stark reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21097938, 33302760, 31999491; Phenotypes: Exudative vitreoretinopathy 1, MIM# 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.45 FZD4 Zornitza Stark Marked gene: FZD4 as ready
Vitreoretinopathy v0.45 FZD4 Zornitza Stark Gene: fzd4 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.45 FZD4 Zornitza Stark Phenotypes for gene: FZD4 were changed from to Exudative vitreoretinopathy 1, MIM# 133780
Vitreoretinopathy v0.44 FZD4 Zornitza Stark Publications for gene: FZD4 were set to
Vitreoretinopathy v0.43 FZD4 Zornitza Stark Mode of inheritance for gene: FZD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.42 FZD4 Zornitza Stark reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21097938, 33302760, 31999491; Phenotypes: Exudative vitreoretinopathy 1, MIM# 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.42 KCNJ13 Zornitza Stark Marked gene: KCNJ13 as ready
Vitreoretinopathy v0.42 KCNJ13 Zornitza Stark Gene: kcnj13 has been classified as Amber List (Moderate Evidence).
Vitreoretinopathy v0.42 KCNJ13 Zornitza Stark Phenotypes for gene: KCNJ13 were changed from to Snowflake vitreoretinal degeneration, MIM# 193230
Vitreoretinopathy v0.41 KCNJ13 Zornitza Stark Publications for gene: KCNJ13 were set to
Vitreoretinopathy v0.40 KCNJ13 Zornitza Stark Mode of inheritance for gene: KCNJ13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vitreoretinopathy v0.39 KCNJ13 Zornitza Stark Classified gene: KCNJ13 as Amber List (moderate evidence)
Vitreoretinopathy v0.39 KCNJ13 Zornitza Stark Gene: kcnj13 has been classified as Amber List (Moderate Evidence).
Vitreoretinopathy v0.38 KCNJ13 Zornitza Stark reviewed gene: KCNJ13: Rating: AMBER; Mode of pathogenicity: None; Publications: 18179896, 23255580, 31647904; Phenotypes: Snowflake vitreoretinal degeneration, MIM# 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vitreoretinopathy v0.38 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Vitreoretinopathy v0.38 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.38 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950
Vitreoretinopathy v0.37 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Vitreoretinopathy v0.36 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.35 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827; Phenotypes: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.35 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Vitreoretinopathy v0.35 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.35 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813
Vitreoretinopathy v0.34 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vitreoretinopathy v0.33 LRP5 Zornitza Stark reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4, MIM# 601813; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vitreoretinopathy v0.33 NDP Zornitza Stark Marked gene: NDP as ready
Vitreoretinopathy v0.33 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Vitreoretinopathy v0.33 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Exudative vitreoretinopathy 2, X-linked, MIM# 305390; Norrie disease, MIM# 310600
Vitreoretinopathy v0.32 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Vitreoretinopathy v0.31 NDP Zornitza Stark reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 2, X-linked, MIM# 305390, Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Vitreoretinopathy v0.31 NR2E3 Zornitza Stark Marked gene: NR2E3 as ready
Vitreoretinopathy v0.31 NR2E3 Zornitza Stark Gene: nr2e3 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.31 NR2E3 Zornitza Stark Phenotypes for gene: NR2E3 were changed from to Enhanced S-cone syndrome, MIM# 268100
Vitreoretinopathy v0.30 NR2E3 Zornitza Stark Publications for gene: NR2E3 were set to
Vitreoretinopathy v0.29 NR2E3 Zornitza Stark Mode of inheritance for gene: NR2E3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.28 NR2E3 Zornitza Stark reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655056, 11071390, 18294254; Phenotypes: Enhanced S-cone syndrome 268100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6052 TSPAN12 Zornitza Stark Marked gene: TSPAN12 as ready
Mendeliome v0.6052 TSPAN12 Zornitza Stark Gene: tspan12 has been classified as Green List (High Evidence).
Mendeliome v0.6052 TSPAN12 Zornitza Stark Phenotypes for gene: TSPAN12 were changed from to Exudative vitreoretinopathy 5, MIM# 613310
Mendeliome v0.6051 TSPAN12 Zornitza Stark Publications for gene: TSPAN12 were set to
Mendeliome v0.6050 TSPAN12 Zornitza Stark Mode of inheritance for gene: TSPAN12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6049 TSPAN12 Zornitza Stark reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20159111, 20159112, 21334594; Phenotypes: Exudative vitreoretinopathy 5, MIM# 613310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.28 TSPAN12 Zornitza Stark Marked gene: TSPAN12 as ready
Vitreoretinopathy v0.28 TSPAN12 Zornitza Stark Gene: tspan12 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.28 TSPAN12 Zornitza Stark Phenotypes for gene: TSPAN12 were changed from to Exudative vitreoretinopathy 5, MIM# 613310
Vitreoretinopathy v0.27 TSPAN12 Zornitza Stark Publications for gene: TSPAN12 were set to
Vitreoretinopathy v0.26 TSPAN12 Zornitza Stark Mode of inheritance for gene: TSPAN12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.25 TSPAN12 Zornitza Stark reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20159111, 20159112, 21334594; Phenotypes: Exudative vitreoretinopathy 5, MIM# 613310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Classified gene: CTNNB1 as Green List (high evidence)
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.158 CTNNB1 Zornitza Stark gene: CTNNB1 was added
gene: CTNNB1 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNNB1 were set to 33350591
Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Review for gene: CTNNB1 was set to GREEN
Added comment: Multiple ocular defects reported in the context of this neurodevelopmental disorder, including vitreoretinopathy.
Sources: Expert Review
Vitreoretinopathy v0.25 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Vitreoretinopathy v0.25 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.25 CTNNB1 Zornitza Stark Phenotypes for gene: CTNNB1 were changed from to Exudative vitreoretinopathy 7, MIM# 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Vitreoretinopathy v0.24 CTNNB1 Zornitza Stark Publications for gene: CTNNB1 were set to
Vitreoretinopathy v0.23 CTNNB1 Zornitza Stark Mode of inheritance for gene: CTNNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.22 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575650, 33350591, 32039639; Phenotypes: Exudative vitreoretinopathy 7, MIM# 617572, Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.22 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Vitreoretinopathy v0.22 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.22 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM# 267750
Vitreoretinopathy v0.21 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Vitreoretinopathy v0.20 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.19 COL18A1 Zornitza Stark reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167, 25456301; Phenotypes: Knobloch syndrome, type 1, MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v1.0 Zornitza Stark promoted panel to version 1.0
Vascular Malformations_Germline v0.124 TEK Zornitza Stark Publications for gene: TEK were set to
Vascular Malformations_Germline v0.123 TEK Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19888299; Phenotypes: Venous malformations, multiple cutaneous and mucosal, MIM# 600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.123 PTEN Zornitza Stark Marked gene: PTEN as ready
Vascular Malformations_Germline v0.123 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.123 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome to Cowden syndrome 1, MIM# 158350; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome
Vascular Malformations_Germline v0.122 PTEN Zornitza Stark Publications for gene: PTEN were set to
Vascular Malformations_Germline v0.121 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196895; Phenotypes: Cowden syndrome 1, MIM# 158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.121 GLMN Zornitza Stark Marked gene: GLMN as ready
Vascular Malformations_Germline v0.121 GLMN Zornitza Stark Gene: glmn has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.121 GLMN Zornitza Stark Phenotypes for gene: GLMN were changed from Glomuvenous malformations to Glomuvenous malformations, MIM# 138000
Vascular Malformations_Germline v0.120 GLMN Zornitza Stark Publications for gene: GLMN were set to
Vascular Malformations_Germline v0.119 GLMN Zornitza Stark reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23375657, 30460983, 24961656; Phenotypes: Glomuvenous malformations, MIM# 138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.119 ENG Zornitza Stark Marked gene: ENG as ready
Vascular Malformations_Germline v0.119 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.119 ENG Zornitza Stark Publications for gene: ENG were set to
Vascular Malformations_Germline v0.118 ENG Zornitza Stark reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.118 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Vascular Malformations_Germline v0.117 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.117 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Vascular Malformations_Germline v0.117 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.117 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501
Vascular Malformations_Germline v0.116 PIK3CA Zornitza Stark Publications for gene: PIK3CA were set to
Vascular Malformations_Germline v0.115 PIK3CA Zornitza Stark Mode of pathogenicity for gene: PIK3CA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Germline v0.114 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.96 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Early-onset Parkinson disease v0.96 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.96 PPP2R5D Zornitza Stark Classified gene: PPP2R5D as Green List (high evidence)
Early-onset Parkinson disease v0.96 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.95 PPP2R5D Zornitza Stark gene: PPP2R5D was added
gene: PPP2R5D was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2R5D were set to 33338668; 32743835
Phenotypes for gene: PPP2R5D were set to Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355
Review for gene: PPP2R5D was set to GREEN
Added comment: 5 individuals reported with de novo missense variants in this gene, a neurodevelopmental disorder, and onset of parkinsonism between the ages of 20-40 years. Four had the same p.(Glu200Lys) variant, and the fifth had p.(Glu198Lys)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3391 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Intellectual disability syndromic and non-syndromic v0.3391 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3391 PPP2R5D Zornitza Stark Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM#616355
Intellectual disability syndromic and non-syndromic v0.3390 PPP2R5D Zornitza Stark Publications for gene: PPP2R5D were set to
Intellectual disability syndromic and non-syndromic v0.3389 PPP2R5D Zornitza Stark Mode of pathogenicity for gene: PPP2R5D was changed from to Other
Intellectual disability syndromic and non-syndromic v0.3388 PPP2R5D Zornitza Stark Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3387 PPP2R5D Zornitza Stark reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32074998, 26168268; Phenotypes: Mental retardation, autosomal dominant 35, MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6049 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Mendeliome v0.6049 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Mendeliome v0.6049 PPP2R5D Zornitza Stark Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM#616355
Mendeliome v0.6048 PPP2R5D Zornitza Stark Publications for gene: PPP2R5D were set to
Mendeliome v0.6047 PPP2R5D Zornitza Stark Mode of pathogenicity for gene: PPP2R5D was changed from to Other
Mendeliome v0.6046 PPP2R5D Zornitza Stark Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6045 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Mendeliome v0.6045 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Mendeliome v0.6045 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170
Mendeliome v0.6044 KAT6B Zornitza Stark Publications for gene: KAT6B were set to
Mendeliome v0.6043 KAT6B Zornitza Stark Mode of pathogenicity for gene: KAT6B was changed from to Other
Mendeliome v0.6042 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.75 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Skeletal dysplasia v0.75 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.75 DVL1 Zornitza Stark Phenotypes for gene: DVL1 were changed from Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2 616331 to Robinow syndrome, autosomal dominant 2, MIM# 616331
Skeletal dysplasia v0.74 DVL1 Zornitza Stark Mode of pathogenicity for gene: DVL1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v0.73 DVL1 Zornitza Stark Mode of inheritance for gene: DVL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6041 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Mendeliome v0.6041 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.72 DVL1 Zornitza Stark reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6041 DVL1 Zornitza Stark Phenotypes for gene: DVL1 were changed from to Robinow syndrome, autosomal dominant 2 (MIM#616331)
Mendeliome v0.6040 DVL1 Zornitza Stark Publications for gene: DVL1 were set to
Mendeliome v0.6039 DVL1 Zornitza Stark Mode of pathogenicity for gene: DVL1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.6038 DVL1 Zornitza Stark Mode of inheritance for gene: DVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Marked gene: ZFP36L1 as ready
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Gene: zfp36l1 has been classified as Red List (Low Evidence).
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Classified gene: ZFP36L1 as Red List (low evidence)
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Gene: zfp36l1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3387 SCAMP5 Zornitza Stark Mode of pathogenicity for gene: SCAMP5 was changed from None to Other
Intellectual disability syndromic and non-syndromic v0.3386 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed mode of pathogenicity: Other
Genetic Epilepsy v0.1005 SCAMP5 Zornitza Stark Mode of pathogenicity for gene: SCAMP5 was changed from None to Other
Genetic Epilepsy v0.1004 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed mode of pathogenicity: Other
Mendeliome v0.6036 SCAMP5 Zornitza Stark Publications for gene: SCAMP5 were set to 31439720
Mendeliome v0.6035 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Added comment: PMID 33390987: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp. The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed publications: 31439720, 33390987
Intellectual disability syndromic and non-syndromic v0.3386 SCAMP5 Zornitza Stark Phenotypes for gene: SCAMP5 were changed from no OMIM number yet to Intellectual disability; seizures; autism
Intellectual disability syndromic and non-syndromic v0.3385 SCAMP5 Zornitza Stark Publications for gene: SCAMP5 were set to PMID: 31439720
Intellectual disability syndromic and non-syndromic v0.3384 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Added comment: PMID 33390987: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp. The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed rating: GREEN; Changed publications: 33390987; Changed phenotypes: Intellectual disability, seizures, autism; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1004 SCAMP5 Zornitza Stark Publications for gene: SCAMP5 were set to 31439720
Genetic Epilepsy v0.1003 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Added comment: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp.

The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed rating: GREEN; Changed publications: 31439720, 33390987
Incidentalome v0.59 THSD4 Zornitza Stark Marked gene: THSD4 as ready
Incidentalome v0.59 THSD4 Zornitza Stark Gene: thsd4 has been classified as Green List (High Evidence).
Incidentalome v0.59 THSD4 Zornitza Stark Classified gene: THSD4 as Green List (high evidence)
Incidentalome v0.59 THSD4 Zornitza Stark Gene: thsd4 has been classified as Green List (High Evidence).
Incidentalome v0.58 THSD4 Zornitza Stark gene: THSD4 was added
gene: THSD4 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THSD4 were set to 32855533
Phenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD)
Review for gene: THSD4 was set to GREEN
Added comment: 5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.16 Zornitza Stark removed gene:THSD4-AS1 from the panel
Differences of Sex Development v0.186 TSPYL1 Zornitza Stark Classified gene: TSPYL1 as Green List (high evidence)
Differences of Sex Development v0.186 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.185 TSPYL1 Zornitza Stark reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15273283, 19463995, 22137496, 25449952, 16418600, 32885560, 33075815; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800), sudden infant death-dysgenesis of the testes syndrome MONDO:0012124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6035 TSPYL1 Zornitza Stark Phenotypes for gene: TSPYL1 were changed from Sudden infant death with dysgenesis of the testes syndrome (MIM#608800) to Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); sudden infant death-dysgenesis of the testes syndrome MONDO:0012124
Mendeliome v0.6034 TSPYL1 Zornitza Stark Publications for gene: TSPYL1 were set to 15273283; 19463995; 22137496; 25449952; 16418600
Mendeliome v0.6033 TSPYL1 Zornitza Stark Classified gene: TSPYL1 as Green List (high evidence)
Mendeliome v0.6033 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1003 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Genetic Epilepsy v0.1003 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1003 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Genetic Epilepsy v0.1003 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1002 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Dystonia and Chorea v0.163 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Dystonia and Chorea v0.163 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.163 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Dystonia and Chorea v0.163 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.162 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Cataract v0.259 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Cataract v0.259 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Cataract v0.259 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Cataract v0.259 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Cataract v0.258 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Microcephaly v0.520 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Microcephaly v0.520 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Microcephaly v0.520 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Microcephaly v0.520 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Microcephaly v0.519 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3384 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Intellectual disability syndromic and non-syndromic v0.3384 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3384 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3384 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3383 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: Currently not associated with any phenotype in OMIM (last updated on 09/12/2011), but has a 'possible' disease confidence rating for 'Autosomal Recessive Mental Retardation' in Gene2Phenotype.

- PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Mendeliome v0.6032 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Mendeliome v0.6031 ZNF526 Zornitza Stark Publications for gene: ZNF526 were set to
Mendeliome v0.6030 ZNF526 Zornitza Stark Mode of inheritance for gene: ZNF526 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6029 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Mendeliome v0.6029 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC2 were set to 30489636; 30042186
Phenotypes for gene: XRCC2 were set to Premature ovarian failure 17, MIM# 619146; Spermatogenic failure, MIM# 619145
Review for gene: XRCC2 was set to RED
Added comment: One individual reported with POF and bi-allelic variants in her gene. Her brother had spermatogenic failure, and one additional family reported with spermatogenic failure.
Sources: Expert list
Incidentalome v0.57 CCNF Zornitza Stark Marked gene: CCNF as ready
Incidentalome v0.57 CCNF Zornitza Stark Gene: ccnf has been classified as Green List (High Evidence).
Incidentalome v0.57 CCNF Zornitza Stark Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Incidentalome v0.56 CCNF Zornitza Stark reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.118 CCNF Zornitza Stark Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Motor Neurone Disease v0.117 CCNF Zornitza Stark reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.132 CCNF Zornitza Stark Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Early-onset Dementia v0.131 CCNF Zornitza Stark reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: None
Motor Neurone Disease v0.117 TIA1 Zornitza Stark Phenotypes for gene: TIA1 were changed from to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133
Motor Neurone Disease v0.116 TIA1 Zornitza Stark reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6028 CYLD Zornitza Stark Phenotypes for gene: CYLD were changed from Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and amyotrophic lateral sclerosis to Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Mendeliome v0.6027 CYLD Zornitza Stark reviewed gene: CYLD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.131 CYLD Zornitza Stark Phenotypes for gene: CYLD were changed from Frontotemporal dementia; Amyotrophic lateral sclerosis to Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Early-onset Dementia v0.130 CYLD Zornitza Stark edited their review of gene: CYLD: Changed phenotypes: Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.156 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Review for gene: MORC2 was set to GREEN
Added comment: Cohort of 20 individuals with a complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5).
Sources: Literature
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.100 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025; 26497905; 26659848
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Review for gene: MORC2 was set to GREEN
Added comment: Reported in 5 families with isolated CMT. Recent cohort of 20 individuals with more complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5).
Sources: Literature
Deafness_IsolatedAndComplex v1.45 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Deafness_IsolatedAndComplex v1.44 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090, Developmental delay, Intellectual disability, Growth retardation, Microcephaly, Craniofacial dysmorphism, Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Mendeliome v0.6027 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Mendeliome v0.6026 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688, Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Intellectual disability syndromic and non-syndromic v0.3382 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688; Intellectual disability to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3381 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090, Intellectual disability
Mendeliome v0.6026 PPP2R5D Elena Savva reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32074998, 26168268; Phenotypes: Mental retardation, autosomal dominant 35, MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6026 KAT6B Elena Savva reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22715153, 32424177; Phenotypes: SBBYSS syndrome MIM#603736, Genitopatellar syndrome MIM#606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.6026 DVL1 Kristin Rigbye reviewed gene: DVL1: 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: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6026 ZFP36L1 Sebastian Lunke reviewed gene: ZFP36L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Genetic Epilepsy v0.1001 SCAMP5 Emma Goss Deleted their review
Genetic Epilepsy v0.1001 SCAMP5 Emma Goss changed review comment from: An additional four unrelated patients with the previously reported missense variant de
novo SCAMP5 variant (p. Gly180Trp) from three countries,
including detailed descriptions of initial clinical presentations
and long-term follow-up (ranged from 1 to 33 years).

: Epilepsy, severe developmental delay, abnormal neurological exam findings,
with or without ASD or variably dysmorphic features and were common in patients with
SCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI
findings were not consistent, but diverse and nonspecific. The motor ability of patients with
Edited by:
Tieliu Shi,
East China Normal University, China
Reviewed by:
Juliet Taylor,
The University of Melbourne, Australia
Chin Moi Chow,
The University of Sydney, Australia
*Correspondence:
Xiaodong Wang
xdwang@ciphergene.com
Zhixian Yang
zhixian.yang@163.com
Specialty section:
This article was submitted to
Translational Pharmacology,
a section of the journal
Frontiers in Pharmacology
Received: 26 August 2020
Accepted: 11 November 2020
Published: 18 December 2020
Citation:
Jiao X, Morleo M, Nigro V, Torella A,
D’Arrigo S, Ciaccio C, Pantaleoni C,
Gong P, Grand K, Sanchez-Lara PA,
Krier J, Fieg E, Stergachis A, Wang X
and Yang Z (2020) Identification of an
Identical de Novo SCAMP5 Missense
Variant in Four Unrelated Patients With
Seizures and Severe
Neurodevelopmental Delay.
Front. Pharmacol. 11:599191.
doi: 10.3389/fphar.2020.599191
Frontiers in Pharmacology | www.frontiersin.org 1 December 2020 | Volume 11 | Article 599191
ORIGINAL RESEARCH
published: 18 December 2020
doi: 10.3389/fphar.2020.599191
heterozygous SCAMP5 variant might have a regressive course; language development
was more severely affected.; to: An additional four unrelated patients with the previously reported missense variant de
novo SCAMP5 variant (p. Gly180Trp) from three countries,
including detailed descriptions of initial clinical presentations
and long-term follow-up (ranged from 1 to 33 years).

Epilepsy, severe developmental delay, abnormal neurological exam findings,
with or without ASD or variably dysmorphic features and were common in patients with
SCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI
findings were not consistent, but diverse and nonspecific.
heterozygous SCAMP5 variant might have a regressive course.
Genetic Epilepsy v0.1001 SCAMP5 Emma Goss reviewed gene: SCAMP5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.15 THSD4 Chirag Patel Classified gene: THSD4 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.15 THSD4 Chirag Patel Gene: thsd4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.14 THSD4 Chirag Patel Classified gene: THSD4 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.14 THSD4 Chirag Patel Gene: thsd4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.13 THSD4 Chirag Patel gene: THSD4 was added
gene: THSD4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THSD4 were set to PMID: 32855533
Phenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD)
Review for gene: THSD4 was set to GREEN
gene: THSD4 was marked as current diagnostic
Added comment: 5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.12 THSD4-AS1 Chirag Patel Classified gene: THSD4-AS1 as Red List (low evidence)
Aortopathy_Connective Tissue Disorders v1.12 THSD4-AS1 Chirag Patel Gene: thsd4-as1 has been classified as Red List (Low Evidence).
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel reviewed gene: THSD4-AS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Deleted their review
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Classified gene: THSD4-AS1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Gene: thsd4-as1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Classified gene: THSD4-AS1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Gene: thsd4-as1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.10 THSD4-AS1 Chirag Patel gene: THSD4-AS1 was added
gene: THSD4-AS1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: THSD4-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THSD4-AS1 were set to PMID: 32855533
Phenotypes for gene: THSD4-AS1 were set to Thoracic aortic aneurysm and dissection (TAAD)
Review for gene: THSD4-AS1 was set to GREEN
gene: THSD4-AS1 was marked as current diagnostic
Added comment: 5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix.
Sources: Literature
Mendeliome v0.6026 TSPYL1 Eleanor Williams reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885560, 33075815; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome OMIM:608800, sudden infant death-dysgenesis of the testes syndrome MONDO:0012124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6026 ZNF526 Arina Puzriakova reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25558065, 33397746; Phenotypes: Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.129 INTS6 Zornitza Stark Marked gene: INTS6 as ready
Autism v0.129 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Autism v0.129 INTS6 Zornitza Stark Classified gene: INTS6 as Red List (low evidence)
Autism v0.129 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Mendeliome v0.6026 INTS6 Zornitza Stark Marked gene: INTS6 as ready
Mendeliome v0.6026 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Mendeliome v0.6026 INTS6 Zornitza Stark Classified gene: INTS6 as Red List (low evidence)
Mendeliome v0.6026 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Mendeliome v0.6025 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Mendeliome v0.6025 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Mendeliome v0.6025 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#1124000
Mendeliome v0.6024 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Mendeliome v0.6023 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6022 BCS1L Zornitza Stark edited their review of gene: BCS1L: Changed phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease
Mendeliome v0.6022 BCS1L Zornitza Stark edited their review of gene: BCS1L: Changed publications: 26563427, 24172246, 17314340
Mendeliome v0.6022 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6022 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Mendeliome v0.6022 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Mendeliome v0.6022 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5 MIM#611719; Ovarian dysgenesis 7 MIM#618117
Mendeliome v0.6021 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to
Mendeliome v0.6020 MRPS22 Zornitza Stark Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v1.0 Zornitza Stark promoted panel to version 1.0
Congenital ophthalmoplegia v0.93 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.6019 KRT10 Elena Savva reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26176760, 20798280, 31638346, 18219278, 16505000; Phenotypes: Epidermolytic hyperkeratosis, MIM#113800, Ichthyosis with confetti, MIM#609165, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6019 BRPF1 Elena Savva reviewed gene: BRPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32652122, 27939640; Phenotypes: Intellectual developmental disorder with dysmorphic facies and ptosis MIM#617333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autism v0.128 INTS6 Elena Savva reviewed gene: INTS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6019 INTS6 Elena Savva reviewed gene: INTS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6019 BCS1L Elena Savva reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17314340; Phenotypes: Bjornstad syndrome MIM#262000, GRACILE syndrome, MIM#603358, Mitochondrial complex III deficiency, nuclear type MIM#1124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6019 MRPS22 Elena Savva reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29566152; Phenotypes: Combined oxidative phosphorylation deficiency 5 MIM#611719, Ovarian dysgenesis 7 MIM#618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Classified gene: NUDT2 as Green List (high evidence)
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.98 NUDT2 Zornitza Stark gene: NUDT2 was added
gene: NUDT2 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 33058507; 27431290; 30059600; 33058507
Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy
Review for gene: NUDT2 was set to GREEN
Added comment: Eight families reported altogether, though some have same founder variant. Four had polyneuropathy as part of the phenotype.
Sources: Literature
Incidentalome v0.56 UQCRC1 Zornitza Stark Marked gene: UQCRC1 as ready
Incidentalome v0.56 UQCRC1 Zornitza Stark Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.56 UQCRC1 Zornitza Stark Classified gene: UQCRC1 as Amber List (moderate evidence)
Incidentalome v0.56 UQCRC1 Zornitza Stark Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.55 UQCRC1 Zornitza Stark gene: UQCRC1 was added
gene: UQCRC1 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UQCRC1 were set to 33141179; 33248804
Phenotypes for gene: UQCRC1 were set to Parkinson's disease
Review for gene: UQCRC1 was set to AMBER
Added comment: Three unrelated families reported in PMID 33141179 with some functional data, however PMID 33248804 failed to identify significant variants in this gene in a large PD cohort.
Sources: Literature
Early-onset Parkinson disease v0.94 UQCRC1 Zornitza Stark Marked gene: UQCRC1 as ready
Early-onset Parkinson disease v0.94 UQCRC1 Zornitza Stark Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.94 UQCRC1 Zornitza Stark Classified gene: UQCRC1 as Amber List (moderate evidence)
Early-onset Parkinson disease v0.94 UQCRC1 Zornitza Stark Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.93 UQCRC1 Zornitza Stark gene: UQCRC1 was added
gene: UQCRC1 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UQCRC1 were set to 33141179; 33248804
Phenotypes for gene: UQCRC1 were set to Parkinson's disease
Review for gene: UQCRC1 was set to AMBER
Added comment: Three unrelated families reported in PMID 33141179 with some functional data, however PMID 33248804 failed to identify significant variants in this gene in a large PD cohort.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3381 CELF2 Zornitza Stark Marked gene: CELF2 as ready
Intellectual disability syndromic and non-syndromic v0.3381 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3381 CELF2 Zornitza Stark Classified gene: CELF2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3381 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3380 CELF2 Zornitza Stark gene: CELF2 was added
gene: CELF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy
Review for gene: CELF2 was set to GREEN
Added comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal.
Sources: Literature
Genetic Epilepsy v0.1001 CELF2 Zornitza Stark Marked gene: CELF2 as ready
Genetic Epilepsy v0.1001 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1001 CELF2 Zornitza Stark Classified gene: CELF2 as Green List (high evidence)
Genetic Epilepsy v0.1001 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1000 CELF2 Zornitza Stark gene: CELF2 was added
gene: CELF2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy
Review for gene: CELF2 was set to GREEN
Added comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal.
Sources: Literature
Mendeliome v0.6019 CELF2 Zornitza Stark Marked gene: CELF2 as ready
Mendeliome v0.6019 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Mendeliome v0.6019 CELF2 Zornitza Stark Classified gene: CELF2 as Green List (high evidence)
Mendeliome v0.6019 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Mendeliome v0.6018 CELF2 Zornitza Stark gene: CELF2 was added
gene: CELF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy
Review for gene: CELF2 was set to GREEN
Added comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal.
Sources: Literature
Genetic Epilepsy v0.999 FGF13 Zornitza Stark Marked gene: FGF13 as ready
Genetic Epilepsy v0.999 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.999 FGF13 Zornitza Stark Classified gene: FGF13 as Green List (high evidence)
Genetic Epilepsy v0.999 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.998 FGF13 Zornitza Stark gene: FGF13 was added
gene: FGF13 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to Intellectual disability; epilepsy
Review for gene: FGF13 was set to GREEN
Added comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay. The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3379 FGF13 Zornitza Stark Marked gene: FGF13 as ready
Intellectual disability syndromic and non-syndromic v0.3379 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3379 FGF13 Zornitza Stark Classified gene: FGF13 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3379 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3378 FGF13 Zornitza Stark gene: FGF13 was added
gene: FGF13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to Intellectual disability; epilepsy
Mode of pathogenicity for gene: FGF13 was set to Other
Review for gene: FGF13 was set to GREEN
Added comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay. The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants.
Sources: Literature
Mendeliome v0.6017 FGF13 Zornitza Stark Marked gene: FGF13 as ready
Mendeliome v0.6017 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Mendeliome v0.6017 FGF13 Zornitza Stark Classified gene: FGF13 as Green List (high evidence)
Mendeliome v0.6017 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Mendeliome v0.6016 FGF13 Zornitza Stark gene: FGF13 was added
gene: FGF13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to Intellectual disability; epilepsy
Mode of pathogenicity for gene: FGF13 was set to Other
Review for gene: FGF13 was set to GREEN
Added comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay.

The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants.
Sources: Literature
Mendeliome v0.6015 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Mendeliome v0.6015 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Mendeliome v0.6015 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Green List (high evidence)
Mendeliome v0.6015 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Green List (high evidence)
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.71 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Review for gene: SCUBE3 was set to GREEN
Added comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.
Sources: Literature
Mendeliome v0.6014 SCUBE3 Zornitza Stark changed review comment from: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies.
Sources: Literature; to: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.
Sources: Literature
Mendeliome v0.6014 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Review for gene: SCUBE3 was set to GREEN
Added comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies.
Sources: Literature
Congenital Heart Defect v0.86 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Congenital Heart Defect v0.86 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.86 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Congenital Heart Defect v0.86 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.85 UBR7 Zornitza Stark gene: UBR7 was added
gene: UBR7 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Review for gene: UBR7 was set to GREEN
Added comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Sources: Literature
Genetic Epilepsy v0.997 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Genetic Epilepsy v0.997 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.997 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Genetic Epilepsy v0.997 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.996 UBR7 Zornitza Stark gene: UBR7 was added
gene: UBR7 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Review for gene: UBR7 was set to GREEN
Added comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3377 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Intellectual disability syndromic and non-syndromic v0.3377 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3377 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3377 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3376 UBR7 Zornitza Stark gene: UBR7 was added
gene: UBR7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Review for gene: UBR7 was set to GREEN
Added comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Sources: Literature
Mendeliome v0.6013 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Mendeliome v0.6013 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Mendeliome v0.6013 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Mendeliome v0.6013 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Mendeliome v0.6012 UBR7 Zornitza Stark gene: UBR7 was added
gene: UBR7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Review for gene: UBR7 was set to GREEN
Added comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3375 RALGAPB Zornitza Stark Marked gene: RALGAPB as ready
Intellectual disability syndromic and non-syndromic v0.3375 RALGAPB Zornitza Stark Gene: ralgapb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3375 RALGAPB Zornitza Stark Classified gene: RALGAPB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3375 RALGAPB Zornitza Stark Gene: ralgapb has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.158 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Hereditary Spastic Paraplegia v0.158 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.158 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.158 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3374 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Intellectual disability syndromic and non-syndromic v0.3374 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3374 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3374 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Regression v0.232 RNU7-1 Zornitza Stark reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi–Goutières syndrome-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.232 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Regression v0.232 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Regression v0.232 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Regression v0.232 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Mendeliome v0.6011 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Mendeliome v0.6011 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Mendeliome v0.6011 RNU7-1 Zornitza Stark Phenotypes for gene: RNU7-1 were changed from PMID: 33230297 to Aicardi–Goutières syndrome-like
Mendeliome v0.6010 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Mendeliome v0.6010 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Brain Calcification v1.5 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Brain Calcification v1.5 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Brain Calcification v1.5 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Brain Calcification v1.5 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.84 Zornitza Stark removed gene:RPL3L from the panel
Intellectual disability syndromic and non-syndromic v0.3373 LSM11 Zornitza Stark Marked gene: LSM11 as ready
Intellectual disability syndromic and non-syndromic v0.3373 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3373 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3373 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Regression v0.231 LSM11 Zornitza Stark Marked gene: LSM11 as ready
Regression v0.231 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Regression v0.231 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Regression v0.231 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Regression v0.231 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Regression v0.231 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Brain Calcification v1.4 LSM11 Zornitza Stark Marked gene: LSM11 as ready
Brain Calcification v1.4 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Brain Calcification v1.4 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Brain Calcification v1.4 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.161 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Dystonia and Chorea v0.161 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.161 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Amber List (moderate evidence)
Dystonia and Chorea v0.161 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.160 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 33236446
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness; early onset dystonia
Review for gene: EIF2AK2 was set to AMBER
Added comment: 10 individuals reported with complex neurological phenotype including ataxia and spasticity.

Additional report in PMID 33236446 of same missense variant, p.Gly130Arg segregating with disease in 5 individuals from one family, and occurring de novo in another individual with prominent, early-onset dystonia. One more individual identified with a homozygous variant and dystonia. Some functional data to support variant pathogenicity. Three of the individuals had additional neurological features including ID.
Sources: Expert Review
Leukodystrophy v0.212 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Leukodystrophy v0.212 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Leukodystrophy v0.212 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Leukodystrophy v0.212 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Leukodystrophy v0.211 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Leukodystrophy - paediatric. Sources: Expert Review
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness
Review for gene: EIF2AK2 was set to GREEN
Added comment: Two additional individuals reported in DOI: https://doi.org/10.1212/NXG.0000000000000539 to add to previous 8. Complex neurological phenotype includes white matter abnormalities, described as Pelizaeus-Merzbacher-like.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3372 DPH2 Zornitza Stark Marked gene: DPH2 as ready
Intellectual disability syndromic and non-syndromic v0.3372 DPH2 Zornitza Stark Gene: dph2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3372 DPH2 Zornitza Stark Classified gene: DPH2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3372 DPH2 Zornitza Stark Gene: dph2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Classified gene: FBRSL1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Marked gene: CDH1 as ready
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Gene: cdh1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Classified gene: CDH1 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Added comment: Comment on list classification: Needs review by PreGen committee - a cause for syndromic Clefting but also for later onset gastric cancer with incomplete overlap of gen phen correlations
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Gene: cdh1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.13 FGFR3 Tony Roscioli Classified gene: FGFR3 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.13 FGFR3 Tony Roscioli Gene: fgfr3 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.12 FGFR3 Tony Roscioli reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.12 TRIM27 Tony Roscioli Classified gene: TRIM27 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.12 TRIM27 Tony Roscioli Added comment: Comment on list classification: Not a clear cause of a Mendelian disorder so should be removed from the incidentalome panel
Incidentalome_PREGEN_DRAFT v0.12 TRIM27 Tony Roscioli Gene: trim27 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.11 TRIM27 Tony Roscioli reviewed gene: TRIM27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.11 TRIM33 Tony Roscioli Classified gene: TRIM33 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.11 TRIM33 Tony Roscioli Added comment: Comment on list classification: Not a clear cause of a Mendelian disorder and so should be removed from the incidentalome gene panel
Incidentalome_PREGEN_DRAFT v0.11 TRIM33 Tony Roscioli Gene: trim33 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.10 TRIM33 Tony Roscioli reviewed gene: TRIM33: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.10 TYROBP Tony Roscioli reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.10 VCP Tony Roscioli Marked gene: VCP as ready
Incidentalome_PREGEN_DRAFT v0.10 VCP Tony Roscioli Added comment: Comment when marking as ready: Some evidence for AD CMT 2Y, but only a few families
Major phenotype for gene is an adult onset dementia
Should be kept in the PreGen incidentalome gene list
Incidentalome_PREGEN_DRAFT v0.10 VCP Tony Roscioli Gene: vcp has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.10 VHL Tony Roscioli Classified gene: VHL as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.10 VHL Tony Roscioli Added comment: Comment on list classification: Requires review by PreGen committee
Incidentalome_PREGEN_DRAFT v0.10 VHL Tony Roscioli Gene: vhl has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.9 VHL Tony Roscioli Classified gene: VHL as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.9 VHL Tony Roscioli Added comment: Comment on list classification: Needs discussion by PreGen Committee
Incidentalome_PREGEN_DRAFT v0.9 VHL Tony Roscioli Gene: vhl has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.8 WT1 Tony Roscioli Marked gene: WT1 as ready
Incidentalome_PREGEN_DRAFT v0.8 WT1 Tony Roscioli Gene: wt1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.8 WT1 Tony Roscioli Classified gene: WT1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.8 WT1 Tony Roscioli Gene: wt1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.7 WT1 Tony Roscioli reviewed gene: WT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.7 ZBTB16 Tony Roscioli Classified gene: ZBTB16 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.7 ZBTB16 Tony Roscioli Gene: zbtb16 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.6 ZBTB16 Tony Roscioli reviewed gene: ZBTB16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6009 RABL2A Zornitza Stark Marked gene: RABL2A as ready
Mendeliome v0.6009 RABL2A Zornitza Stark Gene: rabl2a has been classified as Red List (Low Evidence).
Mendeliome v0.6009 RABL2A Zornitza Stark Publications for gene: RABL2A were set to 33075816
Mendeliome v0.6008 RABL2A Zornitza Stark Mode of inheritance for gene: RABL2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6007 RABL2A Zornitza Stark Classified gene: RABL2A as Red List (low evidence)
Mendeliome v0.6007 RABL2A Zornitza Stark Gene: rabl2a has been classified as Red List (Low Evidence).
Mendeliome v0.6006 RABL2A Zornitza Stark reviewed gene: RABL2A: Rating: RED; Mode of pathogenicity: None; Publications: 24825419; Phenotypes: Male infertility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.54 NF2 Zornitza Stark Marked gene: NF2 as ready
Incidentalome v0.54 NF2 Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence).
Incidentalome v0.54 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2, MIM# 101000
Incidentalome v0.53 NF2 Zornitza Stark Publications for gene: NF2 were set to
Incidentalome v0.52 NF2 Zornitza Stark Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.51 NF2 Zornitza Stark reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2, MIM# 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6006 AKT1 Zornitza Stark Classified gene: AKT1 as Green List (high evidence)
Mendeliome v0.6006 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Mendeliome v0.6005 AKT1 Zornitza Stark reviewed gene: AKT1: 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: 21793738; Phenotypes: Proteus syndrome, somatic 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6005 CEP250 Zornitza Stark Marked gene: CEP250 as ready
Mendeliome v0.6005 CEP250 Zornitza Stark Gene: cep250 has been classified as Green List (High Evidence).
Mendeliome v0.6005 CEP250 Zornitza Stark Phenotypes for gene: CEP250 were changed from to Cone-rod dystrophy and hearing loss 2, MIM# 618358
Mendeliome v0.6004 CEP250 Zornitza Stark Publications for gene: CEP250 were set to
Mendeliome v0.6003 CEP250 Zornitza Stark Mode of inheritance for gene: CEP250 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6002 CEP250 Zornitza Stark reviewed gene: CEP250: Rating: GREEN; Mode of pathogenicity: None; Publications: 24780881, 29718797, 30459346; Phenotypes: Cone-rod dystrophy and hearing loss 2, MIM# 618358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6002 RABL2A Eleanor Williams gene: RABL2A was added
gene: RABL2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RABL2A was set to Unknown
Publications for gene: RABL2A were set to 33075816
Phenotypes for gene: RABL2A were set to male infertility; ciliopathy
Review for gene: RABL2A was set to RED
Added comment: PMID: 33075816 - Ding et al 2020 - with the aim of identifying variants that affect male fertility, the authors report on mice expressing two RABL2A SNPs found to be rare (MAF between 2% and 0.02% in gnomAD, with a deleterious prediction from SIFT and PolyPhen-2, and to affect protein stability. Mice homozygous for these variants (p.L119F and p.V158F) were found to be show ciliopathy-associated disorders including male infertility, early growth retardation, excessive weight gain in adulthood, heterotaxia, pre-axial polydactyly, neural tube defects and hydrocephalus.
Sources: Literature
Incidentalome v0.51 NF2 Eleanor Williams reviewed gene: NF2: Rating: ; Mode of pathogenicity: None; Publications: 33075808; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6002 AKT1 Eleanor Williams reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.30 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.30 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.30 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.29 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.28 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.28 STRADA Zornitza Stark Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087)
Mendeliome v0.6002 VCAN Zornitza Stark Marked gene: VCAN as ready
Mendeliome v0.6002 VCAN Zornitza Stark Gene: vcan has been classified as Green List (High Evidence).
Mendeliome v0.6002 VCAN Zornitza Stark Phenotypes for gene: VCAN were changed from to Wagner syndrome 1, MIM# 143200
Mendeliome v0.6001 VCAN Zornitza Stark Publications for gene: VCAN were set to
Mendeliome v0.6000 VCAN Zornitza Stark Mode of inheritance for gene: VCAN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5999 VCAN Zornitza Stark reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16877430, 22739342, 16636652, 16043844, 32854301, 30657523, 30055036, 29071374, 27667122; Phenotypes: Wagner syndrome 1, MIM# 143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.19 VCAN Zornitza Stark Marked gene: VCAN as ready
Vitreoretinopathy v0.19 VCAN Zornitza Stark Gene: vcan has been classified as Green List (High Evidence).
Vitreoretinopathy v0.19 VCAN Zornitza Stark Phenotypes for gene: VCAN were changed from to Wagner syndrome 1, MIM# 143200
Vitreoretinopathy v0.18 VCAN Zornitza Stark Publications for gene: VCAN were set to
Vitreoretinopathy v0.17 VCAN Zornitza Stark Mode of inheritance for gene: VCAN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.16 VCAN Zornitza Stark Tag SV/CNV tag was added to gene: VCAN.
Vitreoretinopathy v0.16 VCAN Zornitza Stark reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16877430, 22739342, 16636652, 16043844, 32854301, 30657523, 30055036, 29071374, 27667122; Phenotypes: Wagner syndrome 1, MIM# 143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.16 ZNF408 Zornitza Stark Marked gene: ZNF408 as ready
Vitreoretinopathy v0.16 ZNF408 Zornitza Stark Gene: znf408 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.16 ZNF408 Zornitza Stark Phenotypes for gene: ZNF408 were changed from to Exudative vitreoretinopathy 6, MIM# 616468
Vitreoretinopathy v0.15 ZNF408 Zornitza Stark Publications for gene: ZNF408 were set to
Vitreoretinopathy v0.14 ZNF408 Zornitza Stark Mode of inheritance for gene: ZNF408 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.13 ZNF408 Zornitza Stark reviewed gene: ZNF408: Rating: GREEN; Mode of pathogenicity: None; Publications: 23716654, 32530348, 32097476, 32238352, 30998249, 29982478; Phenotypes: Exudative vitreoretinopathy 6, MIM# 616468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5999 CAPN5 Zornitza Stark Marked gene: CAPN5 as ready
Mendeliome v0.5999 CAPN5 Zornitza Stark Gene: capn5 has been classified as Green List (High Evidence).
Mendeliome v0.5999 CAPN5 Zornitza Stark Phenotypes for gene: CAPN5 were changed from to Vitreoretinopathy, neovascular inflammatory, MIM# 193235
Mendeliome v0.5998 CAPN5 Zornitza Stark Publications for gene: CAPN5 were set to
Mendeliome v0.5997 CAPN5 Zornitza Stark Mode of inheritance for gene: CAPN5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5996 CAPN5 Zornitza Stark reviewed gene: CAPN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23055945, 32274441, 31110225, 30986125; Phenotypes: Vitreoretinopathy, neovascular inflammatory, MIM# 193235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.13 CAPN5 Zornitza Stark Marked gene: CAPN5 as ready
Vitreoretinopathy v0.13 CAPN5 Zornitza Stark Gene: capn5 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.13 CAPN5 Zornitza Stark Phenotypes for gene: CAPN5 were changed from to Vitreoretinopathy, neovascular inflammatory, MIM# 193235
Vitreoretinopathy v0.12 CAPN5 Zornitza Stark Publications for gene: CAPN5 were set to
Vitreoretinopathy v0.11 CAPN5 Zornitza Stark Mode of inheritance for gene: CAPN5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.10 CAPN5 Zornitza Stark reviewed gene: CAPN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23055945, 32274441, 31110225, 30986125; Phenotypes: Vitreoretinopathy, neovascular inflammatory, MIM# 193235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v1.0 Zornitza Stark promoted panel to version 1.0
Corneal Dystrophy v0.77 UBIAD1 Zornitza Stark Marked gene: UBIAD1 as ready
Corneal Dystrophy v0.77 UBIAD1 Zornitza Stark Gene: ubiad1 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.77 UBIAD1 Zornitza Stark Phenotypes for gene: UBIAD1 were changed from Corneal dystrophy, Schnyder type, MIM# 121800 to Corneal dystrophy, Schnyder type, MIM# 121800
Mendeliome v0.5996 UBIAD1 Zornitza Stark Marked gene: UBIAD1 as ready
Mendeliome v0.5996 UBIAD1 Zornitza Stark Gene: ubiad1 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.77 UBIAD1 Zornitza Stark Phenotypes for gene: UBIAD1 were changed from to Corneal dystrophy, Schnyder type, MIM# 121800
Mendeliome v0.5996 UBIAD1 Zornitza Stark Phenotypes for gene: UBIAD1 were changed from to Corneal dystrophy, Schnyder type, MIM# 121800
Mendeliome v0.5995 UBIAD1 Zornitza Stark Publications for gene: UBIAD1 were set to
Mendeliome v0.5994 UBIAD1 Zornitza Stark Mode of inheritance for gene: UBIAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5993 UBIAD1 Zornitza Stark reviewed gene: UBIAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18176953, 23169578, 31323021, 30785396, 30223810; Phenotypes: Corneal dystrophy, Schnyder type, MIM# 121800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.76 UBIAD1 Zornitza Stark Publications for gene: UBIAD1 were set to
Corneal Dystrophy v0.75 UBIAD1 Zornitza Stark Mode of inheritance for gene: UBIAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.74 UBIAD1 Zornitza Stark reviewed gene: UBIAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18176953, 23169578, 31323021, 30785396, 30223810; Phenotypes: Corneal dystrophy, Schnyder type, MIM# 121800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5993 TGFBI Zornitza Stark Marked gene: TGFBI as ready
Mendeliome v0.5993 TGFBI Zornitza Stark Gene: tgfbi has been classified as Green List (High Evidence).
Corneal Dystrophy v0.74 TGFBI Zornitza Stark Marked gene: TGFBI as ready
Corneal Dystrophy v0.74 TGFBI Zornitza Stark Gene: tgfbi has been classified as Green List (High Evidence).
Mendeliome v0.5993 TGFBI Zornitza Stark Phenotypes for gene: TGFBI were changed from to Corneal dystrophy, multiple types, MONDO:0000764
Corneal Dystrophy v0.74 TGFBI Zornitza Stark Phenotypes for gene: TGFBI were changed from to Corneal dystrophy, multiple types, MONDO:0000764
Mendeliome v0.5992 TGFBI Zornitza Stark Publications for gene: TGFBI were set to
Mendeliome v0.5991 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5990 TGFBI Zornitza Stark reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054935; Phenotypes: Corneal dystrophy, multiple types, MONDO:0000764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.73 TGFBI Zornitza Stark Publications for gene: TGFBI were set to
Corneal Dystrophy v0.72 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.71 TGFBI Zornitza Stark reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054935; Phenotypes: Corneal dystrophy, multiple types, MONDO:0000764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.71 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Corneal Dystrophy v0.71 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.71 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Corneal dystrophy, Fuchs endothelial, 3, MIM# 613267
Corneal Dystrophy v0.70 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Corneal Dystrophy v0.69 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.68 TCF4 Zornitza Stark Tag STR tag was added to gene: TCF4.
Corneal Dystrophy v0.68 TCF4 Zornitza Stark reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25722209; Phenotypes: Corneal dystrophy, Fuchs endothelial, 3, MIM# 613267; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5990 TACSTD2 Zornitza Stark Marked gene: TACSTD2 as ready
Mendeliome v0.5990 TACSTD2 Zornitza Stark Gene: tacstd2 has been classified as Green List (High Evidence).
Mendeliome v0.5990 TACSTD2 Zornitza Stark Phenotypes for gene: TACSTD2 were changed from to Corneal dystrophy, gelatinous drop-like, MIM# 204870
Mendeliome v0.5989 TACSTD2 Zornitza Stark Publications for gene: TACSTD2 were set to
Mendeliome v0.5988 TACSTD2 Zornitza Stark Mode of inheritance for gene: TACSTD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5987 TACSTD2 Zornitza Stark reviewed gene: TACSTD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10192395, 12107443, 12614764, 31666974, 31534795; Phenotypes: Corneal dystrophy, gelatinous drop-like, MIM# 204870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.68 TACSTD2 Zornitza Stark Marked gene: TACSTD2 as ready
Corneal Dystrophy v0.68 TACSTD2 Zornitza Stark Gene: tacstd2 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.68 TACSTD2 Zornitza Stark Phenotypes for gene: TACSTD2 were changed from to Corneal dystrophy, gelatinous drop-like, MIM# 204870
Corneal Dystrophy v0.67 TACSTD2 Zornitza Stark Publications for gene: TACSTD2 were set to
Corneal Dystrophy v0.66 TACSTD2 Zornitza Stark Mode of inheritance for gene: TACSTD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.65 TACSTD2 Zornitza Stark reviewed gene: TACSTD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10192395, 12107443, 12614764, 31666974, 31534795; Phenotypes: Corneal dystrophy, gelatinous drop-like, MIM# 204870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.65 SLC4A11 Zornitza Stark Marked gene: SLC4A11 as ready
Corneal Dystrophy v0.65 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.65 SLC4A11 Zornitza Stark Phenotypes for gene: SLC4A11 were changed from to Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700
Corneal Dystrophy v0.64 SLC4A11 Zornitza Stark Mode of inheritance for gene: SLC4A11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Corneal Dystrophy v0.63 SLC4A11 Zornitza Stark reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268, Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Corneal Dystrophy v0.63 PRDM5 Zornitza Stark Marked gene: PRDM5 as ready
Corneal Dystrophy v0.63 PRDM5 Zornitza Stark Gene: prdm5 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.63 PRDM5 Zornitza Stark Phenotypes for gene: PRDM5 were changed from to Brittle cornea syndrome 2, MIM# 614170
Corneal Dystrophy v0.62 PRDM5 Zornitza Stark Publications for gene: PRDM5 were set to
Corneal Dystrophy v0.61 PRDM5 Zornitza Stark Mode of inheritance for gene: PRDM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.60 PRDM5 Zornitza Stark reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21664999, 22122778, 26395458, 33120686, 27032025; Phenotypes: Brittle cornea syndrome 2, MIM# 614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5987 KIF27 Zornitza Stark Marked gene: KIF27 as ready
Mendeliome v0.5987 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Mendeliome v0.5987 KIF27 Zornitza Stark Classified gene: KIF27 as Red List (low evidence)
Mendeliome v0.5987 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Callosome v0.245 KIF27 Zornitza Stark Marked gene: KIF27 as ready
Callosome v0.245 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Callosome v0.245 KIF27 Zornitza Stark Classified gene: KIF27 as Red List (low evidence)
Callosome v0.245 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Mendeliome v0.5986 KIF27 Anna Le Fevre reviewed gene: KIF27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Callosome v0.244 KIF27 Anna Le Fevre reviewed gene: KIF27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Callosome v0.244 ZEB1 Zornitza Stark Marked gene: ZEB1 as ready
Callosome v0.244 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Amber List (Moderate Evidence).
Callosome v0.244 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Corpus callosum abnormalities
Callosome v0.243 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to
Callosome v0.242 ZEB1 Zornitza Stark Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.241 ZEB1 Zornitza Stark Classified gene: ZEB1 as Amber List (moderate evidence)
Callosome v0.241 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Amber List (Moderate Evidence).
Callosome v0.240 ZEB1 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB1.
Callosome v0.240 ZEB1 Zornitza Stark reviewed gene: ZEB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24780443, 28284480, 28742278; Phenotypes: Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270, Corneal dystrophy, posterior polymorphous, 3, MIM# 609141, Corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5986 ZEB1 Zornitza Stark Marked gene: ZEB1 as ready
Mendeliome v0.5986 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Green List (High Evidence).
Mendeliome v0.5986 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141
Mendeliome v0.5985 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to
Mendeliome v0.5984 ZEB1 Zornitza Stark Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5983 ZEB1 Zornitza Stark reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16252232, 20036349, 26622166; Phenotypes: Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270, Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.60 ZEB1 Zornitza Stark Marked gene: ZEB1 as ready
Corneal Dystrophy v0.60 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.60 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141
Corneal Dystrophy v0.59 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to
Corneal Dystrophy v0.58 ZEB1 Zornitza Stark Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.57 ZEB1 Zornitza Stark reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16252232, 20036349, 26622166; Phenotypes: Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270, Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5983 ZNF469 Zornitza Stark Marked gene: ZNF469 as ready
Mendeliome v0.5983 ZNF469 Zornitza Stark Gene: znf469 has been classified as Green List (High Evidence).
Mendeliome v0.5983 ZNF469 Zornitza Stark Phenotypes for gene: ZNF469 were changed from to Brittle cornea syndrome 1, MIM# 229200
Mendeliome v0.5982 ZNF469 Zornitza Stark Publications for gene: ZNF469 were set to
Mendeliome v0.5981 ZNF469 Zornitza Stark Mode of inheritance for gene: ZNF469 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5980 ZNF469 Zornitza Stark reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452888, 19661234, 20938016, 21664999, 32671420; Phenotypes: Brittle cornea syndrome 1, MIM# 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.57 ZNF469 Zornitza Stark Marked gene: ZNF469 as ready
Corneal Dystrophy v0.57 ZNF469 Zornitza Stark Gene: znf469 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.57 ZNF469 Zornitza Stark Phenotypes for gene: ZNF469 were changed from to Brittle cornea syndrome 1, MIM# 229200
Corneal Dystrophy v0.56 ZNF469 Zornitza Stark Publications for gene: ZNF469 were set to
Corneal Dystrophy v0.55 ZNF469 Zornitza Stark Mode of inheritance for gene: ZNF469 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.54 ZNF469 Zornitza Stark reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452888, 19661234, 20938016, 21664999, 32671420; Phenotypes: Brittle cornea syndrome 1, MIM# 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5980 PIKFYVE Zornitza Stark Marked gene: PIKFYVE as ready
Mendeliome v0.5980 PIKFYVE Zornitza Stark Gene: pikfyve has been classified as Green List (High Evidence).
Mendeliome v0.5980 PIKFYVE Zornitza Stark Phenotypes for gene: PIKFYVE were changed from to Corneal fleck dystrophy, MIM# 121850
Mendeliome v0.5979 PIKFYVE Zornitza Stark Publications for gene: PIKFYVE were set to
Mendeliome v0.5978 PIKFYVE Zornitza Stark Mode of inheritance for gene: PIKFYVE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5977 PIKFYVE Zornitza Stark reviewed gene: PIKFYVE: Rating: GREEN; Mode of pathogenicity: None; Publications: 15902656, 23288988, 26396486; Phenotypes: Corneal fleck dystrophy, MIM# 121850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.54 PIKFYVE Zornitza Stark Marked gene: PIKFYVE as ready
Corneal Dystrophy v0.54 PIKFYVE Zornitza Stark Gene: pikfyve has been classified as Green List (High Evidence).
Corneal Dystrophy v0.54 PIKFYVE Zornitza Stark Phenotypes for gene: PIKFYVE were changed from to Corneal fleck dystrophy, MIM# 121850
Corneal Dystrophy v0.53 PIKFYVE Zornitza Stark Publications for gene: PIKFYVE were set to
Corneal Dystrophy v0.52 PIKFYVE Zornitza Stark Mode of inheritance for gene: PIKFYVE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.51 PIKFYVE Zornitza Stark reviewed gene: PIKFYVE: Rating: GREEN; Mode of pathogenicity: None; Publications: 15902656, 23288988, 26396486; Phenotypes: Corneal fleck dystrophy, MIM# 121850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5977 OVOL2 Zornitza Stark Marked gene: OVOL2 as ready
Mendeliome v0.5977 OVOL2 Zornitza Stark Gene: ovol2 has been classified as Green List (High Evidence).
Mendeliome v0.5977 OVOL2 Zornitza Stark Phenotypes for gene: OVOL2 were changed from to Corneal dystrophy, posterior polymorphous, 1, MIM# 122000
Mendeliome v0.5976 OVOL2 Zornitza Stark Publications for gene: OVOL2 were set to
Mendeliome v0.5975 OVOL2 Zornitza Stark Tag 5'UTR tag was added to gene: OVOL2.
Mendeliome v0.5975 OVOL2 Zornitza Stark Mode of inheritance for gene: OVOL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5974 OVOL2 Zornitza Stark reviewed gene: OVOL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26749309; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, MIM# 122000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.51 OVOL2 Zornitza Stark Marked gene: OVOL2 as ready
Corneal Dystrophy v0.51 OVOL2 Zornitza Stark Gene: ovol2 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.51 OVOL2 Zornitza Stark Phenotypes for gene: OVOL2 were changed from to Corneal dystrophy, posterior polymorphous, 1, MIM# 122000
Corneal Dystrophy v0.50 OVOL2 Zornitza Stark Publications for gene: OVOL2 were set to
Corneal Dystrophy v0.49 OVOL2 Zornitza Stark Mode of inheritance for gene: OVOL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.48 OVOL2 Zornitza Stark Tag 5'UTR tag was added to gene: OVOL2.
Corneal Dystrophy v0.48 OVOL2 Zornitza Stark reviewed gene: OVOL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26749309; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, MIM# 122000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5974 KRT3 Zornitza Stark Marked gene: KRT3 as ready
Mendeliome v0.5974 KRT3 Zornitza Stark Gene: krt3 has been classified as Green List (High Evidence).
Mendeliome v0.5974 KRT3 Zornitza Stark Phenotypes for gene: KRT3 were changed from to Meesmann corneal dystrophy 2, MIM# 618767
Mendeliome v0.5973 KRT3 Zornitza Stark Publications for gene: KRT3 were set to
Mendeliome v0.5972 KRT3 Zornitza Stark Mode of inheritance for gene: KRT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5971 KRT3 Zornitza Stark reviewed gene: KRT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 16227835, 18806880, 26788030; Phenotypes: Meesmann corneal dystrophy 2, MIM# 618767; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5971 DCN Zornitza Stark Marked gene: DCN as ready
Mendeliome v0.5971 DCN Zornitza Stark Gene: dcn has been classified as Green List (High Evidence).
Corneal Dystrophy v0.48 KRT3 Zornitza Stark Marked gene: KRT3 as ready
Corneal Dystrophy v0.48 KRT3 Zornitza Stark Gene: krt3 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.48 KRT3 Zornitza Stark Phenotypes for gene: KRT3 were changed from to Meesmann corneal dystrophy 2, MIM# 618767
Corneal Dystrophy v0.47 KRT3 Zornitza Stark Publications for gene: KRT3 were set to
Corneal Dystrophy v0.46 KRT3 Zornitza Stark Mode of inheritance for gene: KRT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.45 KRT3 Zornitza Stark reviewed gene: KRT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 16227835, 18806880, 26788030; Phenotypes: Meesmann corneal dystrophy 2, MIM# 618767; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5971 DCN Zornitza Stark Phenotypes for gene: DCN were changed from to Corneal dystrophy, congenital stromal, MIM# 610048
Mendeliome v0.5970 DCN Zornitza Stark Publications for gene: DCN were set to
Mendeliome v0.5969 DCN Zornitza Stark Mode of inheritance for gene: DCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5968 DCN Zornitza Stark reviewed gene: DCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15671264, 16935612, 21993463, 24413633, 26828927; Phenotypes: Corneal dystrophy, congenital stromal, MIM# 610048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.44 DCN Zornitza Stark Marked gene: DCN as ready
Corneal Dystrophy v0.44 DCN Zornitza Stark Gene: dcn has been classified as Green List (High Evidence).
Corneal Dystrophy v0.44 DCN Zornitza Stark Phenotypes for gene: DCN were changed from to Corneal dystrophy, congenital stromal, MIM# 610048
Corneal Dystrophy v0.43 DCN Zornitza Stark Publications for gene: DCN were set to
Corneal Dystrophy v0.42 DCN Zornitza Stark Mode of inheritance for gene: DCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.41 DCN Zornitza Stark reviewed gene: DCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15671264, 16935612, 21993463, 24413633, 26828927; Phenotypes: Corneal dystrophy, congenital stromal, MIM# 610048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5968 COL8A2 Zornitza Stark Marked gene: COL8A2 as ready
Mendeliome v0.5968 COL8A2 Zornitza Stark Gene: col8a2 has been classified as Green List (High Evidence).
Mendeliome v0.5968 COL8A2 Zornitza Stark Phenotypes for gene: COL8A2 were changed from to Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800; Corneal dystrophy, posterior polymorphous 2, MIM# 609140
Mendeliome v0.5967 COL8A2 Zornitza Stark Publications for gene: COL8A2 were set to
Mendeliome v0.5966 COL8A2 Zornitza Stark Mode of inheritance for gene: COL8A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5965 COL8A2 Zornitza Stark reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11689488, 15914606, 18024822, 18464802; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800, Corneal dystrophy, posterior polymorphous 2, MIM# 609140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.41 COL8A2 Zornitza Stark Marked gene: COL8A2 as ready
Corneal Dystrophy v0.41 COL8A2 Zornitza Stark Gene: col8a2 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.41 COL8A2 Zornitza Stark Phenotypes for gene: COL8A2 were changed from to Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800; Corneal dystrophy, posterior polymorphous 2, MIM# 609140
Corneal Dystrophy v0.40 COL8A2 Zornitza Stark Publications for gene: COL8A2 were set to
Corneal Dystrophy v0.39 COL8A2 Zornitza Stark Mode of inheritance for gene: COL8A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.38 COL8A2 Zornitza Stark reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11689488, 15914606, 18024822, 18464802; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800, Corneal dystrophy, posterior polymorphous 2, MIM# 609140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.38 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Corneal Dystrophy v0.38 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.38 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from to Epithelial recurrent erosion dystrophy, MIM# 122400
Corneal Dystrophy v0.37 COL17A1 Zornitza Stark Publications for gene: COL17A1 were set to
Corneal Dystrophy v0.36 COL17A1 Zornitza Stark Mode of inheritance for gene: COL17A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.35 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27309958, 29708937, 25676728; Phenotypes: Epithelial recurrent erosion dystrophy, MIM# 122400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Usher Syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Congenital Diarrhoea v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5965 STX3 Zornitza Stark Marked gene: STX3 as ready
Mendeliome v0.5965 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Mendeliome v0.5965 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from to Microvillus inclusion disease
Congenital Diarrhoea v0.102 STX3 Zornitza Stark Marked gene: STX3 as ready
Congenital Diarrhoea v0.102 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Mendeliome v0.5964 STX3 Zornitza Stark Publications for gene: STX3 were set to
Congenital Diarrhoea v0.102 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from to Microvillus inclusion disease
Mendeliome v0.5963 STX3 Zornitza Stark Mode of inheritance for gene: STX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5962 STX3 Zornitza Stark reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24726755, 29266534, 25358429, 29282386, 30909251, 29282386; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.101 STX3 Zornitza Stark Publications for gene: STX3 were set to
Congenital Diarrhoea v0.100 STX3 Zornitza Stark Mode of inheritance for gene: STX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.99 STX3 Zornitza Stark reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24726755, 29266534, 25358429, 29282386, 30909251, 29282386; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5962 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Mendeliome v0.5962 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Mendeliome v0.5962 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from to Diarrhoea 3, secretory sodium, congenital, syndromic 270420
Mendeliome v0.5961 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to
Mendeliome v0.5960 SPINT2 Zornitza Stark Mode of inheritance for gene: SPINT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5959 SPINT2 Zornitza Stark reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340, 30445423; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.99 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Congenital Diarrhoea v0.99 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.99 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from to Diarrhoea 3, secretory sodium, congenital, syndromic 270420
Congenital Diarrhoea v0.98 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to
Congenital Diarrhoea v0.97 SPINT2 Zornitza Stark Mode of inheritance for gene: SPINT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.96 SPINT2 Zornitza Stark reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340, 30445423; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.96 SLC9A3 Zornitza Stark Marked gene: SLC9A3 as ready
Congenital Diarrhoea v0.96 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Green List (High Evidence).
Mendeliome v0.5959 SLC9A3 Zornitza Stark Marked gene: SLC9A3 as ready
Mendeliome v0.5959 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Green List (High Evidence).
Mendeliome v0.5959 SLC9A3 Zornitza Stark Phenotypes for gene: SLC9A3 were changed from to Diarrhoea 8, secretory sodium, congenital 616868
Mendeliome v0.5958 SLC9A3 Zornitza Stark Publications for gene: SLC9A3 were set to
Mendeliome v0.5957 SLC9A3 Zornitza Stark Mode of inheritance for gene: SLC9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.96 SLC9A3 Zornitza Stark Phenotypes for gene: SLC9A3 were changed from to Diarrhoea 8, secretory sodium, congenital 616868
Mendeliome v0.5956 SLC9A3 Zornitza Stark reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30633106, 31276831, 26358773; Phenotypes: Diarrhoea 8, secretory sodium, congenital 616868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.95 SLC9A3 Zornitza Stark Publications for gene: SLC9A3 were set to
Congenital Diarrhoea v0.94 SLC9A3 Zornitza Stark Mode of inheritance for gene: SLC9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.93 SLC9A3 Zornitza Stark reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30633106, 31276831, 26358773; Phenotypes: Diarrhoea 8, secretory sodium, congenital 616868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.93 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Congenital Diarrhoea v0.93 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.93 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Congenital Diarrhoea v0.92 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Congenital Diarrhoea v0.91 SLC7A7 Zornitza Stark Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.90 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.90 SLC5A1 Zornitza Stark Marked gene: SLC5A1 as ready
Congenital Diarrhoea v0.90 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.90 SLC5A1 Zornitza Stark Phenotypes for gene: SLC5A1 were changed from to Glucose/galactose malabsorption, MIM# 606824
Mendeliome v0.5956 SLC5A1 Zornitza Stark Marked gene: SLC5A1 as ready
Mendeliome v0.5956 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Mendeliome v0.5956 SLC5A1 Zornitza Stark Phenotypes for gene: SLC5A1 were changed from to Glucose/galactose malabsorption, MIM# 606824
Mendeliome v0.5955 SLC5A1 Zornitza Stark Publications for gene: SLC5A1 were set to
Mendeliome v0.5954 SLC5A1 Zornitza Stark Mode of inheritance for gene: SLC5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5953 SLC5A1 Zornitza Stark reviewed gene: SLC5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20486940, 32946683; Phenotypes: Glucose/galactose malabsorption, MIM# 606824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.89 SLC5A1 Zornitza Stark Publications for gene: SLC5A1 were set to
Congenital Diarrhoea v0.88 SLC5A1 Zornitza Stark Mode of inheritance for gene: SLC5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.87 SLC5A1 Zornitza Stark reviewed gene: SLC5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20486940, 32946683; Phenotypes: Glucose/galactose malabsorption, MIM# 606824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.87 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Congenital Diarrhoea v0.87 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.87 SLC39A4 Zornitza Stark Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, MIM# 201100
Mendeliome v0.5953 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Mendeliome v0.5953 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Mendeliome v0.5953 SLC39A4 Zornitza Stark Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, MIM# 201100
Mendeliome v0.5952 SLC39A4 Zornitza Stark Publications for gene: SLC39A4 were set to
Mendeliome v0.5951 SLC39A4 Zornitza Stark Mode of inheritance for gene: SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.86 SLC39A4 Zornitza Stark Publications for gene: SLC39A4 were set to
Mendeliome v0.5950 SLC39A4 Zornitza Stark reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19370757; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.85 SLC39A4 Zornitza Stark Mode of inheritance for gene: SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.84 SLC39A4 Zornitza Stark reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19370757; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.84 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Congenital Diarrhoea v0.84 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.84 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome, MIM# 227810
Congenital Diarrhoea v0.83 SLC2A2 Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.82 SLC2A2 Zornitza Stark Classified gene: SLC2A2 as Red List (low evidence)
Congenital Diarrhoea v0.82 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.81 SLC2A2 Zornitza Stark reviewed gene: SLC2A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5950 SLC26A3 Zornitza Stark Marked gene: SLC26A3 as ready
Mendeliome v0.5950 SLC26A3 Zornitza Stark Gene: slc26a3 has been classified as Green List (High Evidence).
Mendeliome v0.5950 SLC26A3 Zornitza Stark Phenotypes for gene: SLC26A3 were changed from to Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Congenital Diarrhoea v0.81 SLC26A3 Zornitza Stark Marked gene: SLC26A3 as ready
Congenital Diarrhoea v0.81 SLC26A3 Zornitza Stark Gene: slc26a3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.81 SLC26A3 Zornitza Stark Phenotypes for gene: SLC26A3 were changed from to Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Mendeliome v0.5949 SLC26A3 Zornitza Stark Publications for gene: SLC26A3 were set to
Mendeliome v0.5948 SLC26A3 Zornitza Stark Mode of inheritance for gene: SLC26A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.80 SLC26A3 Zornitza Stark Publications for gene: SLC26A3 were set to
Mendeliome v0.5947 SLC26A3 Zornitza Stark reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.79 SLC26A3 Zornitza Stark Mode of inheritance for gene: SLC26A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.79 SLC26A3 Zornitza Stark Mode of inheritance for gene: SLC26A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.78 SLC26A3 Zornitza Stark reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5947 SLC51B Zornitza Stark Marked gene: SLC51B as ready
Mendeliome v0.5947 SLC51B Zornitza Stark Gene: slc51b has been classified as Red List (Low Evidence).
Mendeliome v0.5947 SLC51B Zornitza Stark gene: SLC51B was added
gene: SLC51B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC51B were set to 28898457
Phenotypes for gene: SLC51B were set to Congenital diarrhoea; Cholestasis
Review for gene: SLC51B was set to RED
Added comment: Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis.
Sources: Expert Review
Congenital Diarrhoea v0.78 SLC51B Zornitza Stark Marked gene: SLC51B as ready
Congenital Diarrhoea v0.78 SLC51B Zornitza Stark Gene: slc51b has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.78 SLC51B Zornitza Stark gene: SLC51B was added
gene: SLC51B was added to Congenital Diarrhoea. Sources: Expert Review
Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC51B were set to 28898457
Phenotypes for gene: SLC51B were set to Congenital diarrhoea; Cholestasis
Review for gene: SLC51B was set to RED
Added comment: Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis.
Sources: Expert Review
Mendeliome v0.5946 SLC10A2 Zornitza Stark Marked gene: SLC10A2 as ready
Mendeliome v0.5946 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5946 SLC10A2 Zornitza Stark Phenotypes for gene: SLC10A2 were changed from to Bile acid malabsorption, primary, MIM# 613291
Mendeliome v0.5945 SLC10A2 Zornitza Stark Publications for gene: SLC10A2 were set to
Mendeliome v0.5944 SLC10A2 Zornitza Stark Mode of inheritance for gene: SLC10A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5943 SLC10A2 Zornitza Stark Classified gene: SLC10A2 as Red List (low evidence)
Mendeliome v0.5943 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5942 SLC10A2 Zornitza Stark reviewed gene: SLC10A2: Rating: RED; Mode of pathogenicity: None; Publications: 9109432; Phenotypes: Bile acid malabsorption, primary, MIM# 613291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.77 SLC10A2 Zornitza Stark Marked gene: SLC10A2 as ready
Congenital Diarrhoea v0.77 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.77 SLC10A2 Zornitza Stark Phenotypes for gene: SLC10A2 were changed from to Bile acid malabsorption, primary, MIM# 613291
Congenital Diarrhoea v0.76 SLC10A2 Zornitza Stark Publications for gene: SLC10A2 were set to
Congenital Diarrhoea v0.75 SLC10A2 Zornitza Stark Mode of inheritance for gene: SLC10A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.74 SLC10A2 Zornitza Stark Classified gene: SLC10A2 as Red List (low evidence)
Congenital Diarrhoea v0.74 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.73 SLC10A2 Zornitza Stark reviewed gene: SLC10A2: Rating: RED; Mode of pathogenicity: None; Publications: 9109432; Phenotypes: Bile acid malabsorption, primary, MIM# 613291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.73 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Congenital Diarrhoea v0.73 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.73 SKIV2L Zornitza Stark Phenotypes for gene: SKIV2L were changed from to Trichohepatoenteric syndrome 2, MIM# 614602
Congenital Diarrhoea v0.72 SKIV2L Zornitza Stark Publications for gene: SKIV2L were set to
Congenital Diarrhoea v0.71 SKIV2L Zornitza Stark Mode of inheritance for gene: SKIV2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.70 SKIV2L Zornitza Stark reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444670, 33114497, 30397475, 29527791, 29484573; Phenotypes: Trichohepatoenteric syndrome 2, MIM# 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5942 PLVAP Zornitza Stark Marked gene: PLVAP as ready
Mendeliome v0.5942 PLVAP Zornitza Stark Gene: plvap has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.70 SI Zornitza Stark Marked gene: SI as ready
Congenital Diarrhoea v0.70 SI Zornitza Stark Gene: si has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.70 SI Zornitza Stark Publications for gene: SI were set to
Congenital Diarrhoea v0.69 SI Zornitza Stark Phenotypes for gene: SI were changed from to Sucrase-isomaltase deficiency, congenital, MIM# 222900
Congenital Diarrhoea v0.68 SI Zornitza Stark Mode of inheritance for gene: SI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.67 SI Zornitza Stark reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sucrase-isomaltase deficiency, congenital, MIM# 222900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.67 SBDS Zornitza Stark Marked gene: SBDS as ready
Congenital Diarrhoea v0.67 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.67 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Congenital Diarrhoea v0.66 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.65 SBDS Zornitza Stark reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.65 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Congenital Diarrhoea v0.65 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.65 SAR1B Zornitza Stark Phenotypes for gene: SAR1B were changed from to Chylomicron retention disease, MIM# 246700
Congenital Diarrhoea v0.64 SAR1B Zornitza Stark Mode of inheritance for gene: SAR1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.63 SAR1B Zornitza Stark reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chylomicron retention disease, MIM# 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.63 PRSS1 Zornitza Stark Marked gene: PRSS1 as ready
Congenital Diarrhoea v0.63 PRSS1 Zornitza Stark Gene: prss1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.63 PRSS1 Zornitza Stark Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary, MIM# 167800
Congenital Diarrhoea v0.62 PRSS1 Zornitza Stark Publications for gene: PRSS1 were set to
Congenital Diarrhoea v0.61 PRSS1 Zornitza Stark Mode of inheritance for gene: PRSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Diarrhoea v0.60 PRSS1 Zornitza Stark reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22379635; Phenotypes: Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5942 PLVAP Zornitza Stark Phenotypes for gene: PLVAP were changed from to Diarrhoea 10, protein-losing enteropathy type, MIM# 618183
Mendeliome v0.5941 PLVAP Zornitza Stark Publications for gene: PLVAP were set to
Mendeliome v0.5940 PLVAP Zornitza Stark Mode of inheritance for gene: PLVAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5939 PLVAP Zornitza Stark reviewed gene: PLVAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29875123, 29661969, 26207260, 31215290; Phenotypes: Diarrhoea 10, protein-losing enteropathy type, MIM# 618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.60 PLVAP Zornitza Stark Marked gene: PLVAP as ready
Congenital Diarrhoea v0.60 PLVAP Zornitza Stark Gene: plvap has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.60 PLVAP Zornitza Stark Phenotypes for gene: PLVAP were changed from to Diarrhoea 10, protein-losing enteropathy type, MIM# 618183
Congenital Diarrhoea v0.59 PLVAP Zornitza Stark Publications for gene: PLVAP were set to
Congenital Diarrhoea v0.58 PLVAP Zornitza Stark Mode of inheritance for gene: PLVAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.57 PLVAP Zornitza Stark reviewed gene: PLVAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29875123, 29661969, 26207260, 31215290; Phenotypes: Diarrhea 10, protein-losing enteropathy type, MIM# 618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.57 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Congenital Diarrhoea v0.57 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.57 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from to Obesity with impaired prohormone processing, MIM# 600955
Congenital Diarrhoea v0.56 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Congenital Diarrhoea v0.55 PCSK1 Zornitza Stark Mode of inheritance for gene: PCSK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.54 PCSK1 Zornitza Stark reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14617756, 17595246; Phenotypes: Obesity with impaired prohormone processing, MIM# 600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from Diarrhea 4, malabsorptive, congenital to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Additional findings_Paediatric v0.192 NEUROG3 Zornitza Stark Publications for gene: NEUROG3 were set to
Additional findings_Paediatric v0.191 NEUROG3 Zornitza Stark Classified gene: NEUROG3 as Green List (high evidence)
Additional findings_Paediatric v0.191 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.190 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16855267, 32574610, 28724572, 21490072; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5939 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Mendeliome v0.5939 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Mendeliome v0.5939 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Mendeliome v0.5938 NEUROG3 Zornitza Stark Publications for gene: NEUROG3 were set to
Mendeliome v0.5937 NEUROG3 Zornitza Stark Mode of inheritance for gene: NEUROG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5936 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16855267, 32574610, 28724572, 21490072; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.54 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Congenital Diarrhoea v0.54 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.54 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Congenital Diarrhoea v0.53 NEUROG3 Zornitza Stark Publications for gene: NEUROG3 were set to
Congenital Diarrhoea v0.52 NEUROG3 Zornitza Stark Mode of inheritance for gene: NEUROG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.51 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16855267, 32574610, 28724572, 21490072; Phenotypes: Diarrhea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.51 GUCY2C Zornitza Stark Marked gene: GUCY2C as ready
Congenital Diarrhoea v0.51 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.51 GUCY2C Zornitza Stark Phenotypes for gene: GUCY2C were changed from to Diarrhoea 6, MIM# 614616
Congenital Diarrhoea v0.50 GUCY2C Zornitza Stark Publications for gene: GUCY2C were set to
Congenital Diarrhoea v0.49 GUCY2C Zornitza Stark Mode of pathogenicity for gene: GUCY2C was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Congenital Diarrhoea v0.48 GUCY2C Zornitza Stark Mode of inheritance for gene: GUCY2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Diarrhoea v0.47 GUCY2C Zornitza Stark reviewed gene: GUCY2C: 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: 22521417, 22436048, 25994218, 30353760, 28957388; Phenotypes: Diarrhoea 6, MIM# 614616; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Diarrhoea v0.47 TMPRSS15 Zornitza Stark Marked gene: TMPRSS15 as ready
Congenital Diarrhoea v0.47 TMPRSS15 Zornitza Stark Gene: tmprss15 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.47 TMPRSS15 Zornitza Stark Phenotypes for gene: TMPRSS15 were changed from to Enterokinase deficiency, MIM# 226200
Mendeliome v0.5936 TMPRSS15 Zornitza Stark Marked gene: TMPRSS15 as ready
Mendeliome v0.5936 TMPRSS15 Zornitza Stark Gene: tmprss15 has been classified as Green List (High Evidence).
Mendeliome v0.5936 TMPRSS15 Zornitza Stark Phenotypes for gene: TMPRSS15 were changed from to Enterokinase deficiency, MIM# 226200
Mendeliome v0.5935 TMPRSS15 Zornitza Stark Publications for gene: TMPRSS15 were set to
Mendeliome v0.5934 TMPRSS15 Zornitza Stark Mode of inheritance for gene: TMPRSS15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.46 TMPRSS15 Zornitza Stark Publications for gene: TMPRSS15 were set to
Mendeliome v0.5933 TMPRSS15 Zornitza Stark reviewed gene: TMPRSS15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11719902, 33061943; Phenotypes: Enterokinase deficiency, MIM# 226200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.45 TMPRSS15 Zornitza Stark Mode of inheritance for gene: TMPRSS15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.44 TMPRSS15 Zornitza Stark reviewed gene: TMPRSS15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11719902, 33061943; Phenotypes: Enterokinase deficiency, MIM# 226200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5933 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Mendeliome v0.5933 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Mendeliome v0.5933 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM# 222470
Mendeliome v0.5932 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Mendeliome v0.5931 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5930 TTC37 Zornitza Stark reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.44 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Congenital Diarrhoea v0.44 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.44 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM# 222470
Congenital Diarrhoea v0.43 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Congenital Diarrhoea v0.42 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.41 TTC37 Zornitza Stark reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5930 WNT2B Zornitza Stark Marked gene: WNT2B as ready
Mendeliome v0.5930 WNT2B Zornitza Stark Gene: wnt2b has been classified as Green List (High Evidence).
Mendeliome v0.5930 WNT2B Zornitza Stark Phenotypes for gene: WNT2B were changed from to Diarrhoea 9, MIM# 618168
Mendeliome v0.5929 WNT2B Zornitza Stark Publications for gene: WNT2B were set to
Mendeliome v0.5928 WNT2B Zornitza Stark Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5927 WNT2B Zornitza Stark reviewed gene: WNT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909964; Phenotypes: Diarrhoea 9, MIM# 618168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.41 WNT2B Zornitza Stark Marked gene: WNT2B as ready
Congenital Diarrhoea v0.41 WNT2B Zornitza Stark Gene: wnt2b has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.41 WNT2B Zornitza Stark Phenotypes for gene: WNT2B were changed from to Diarrhoea 9, MIM# 618168
Congenital Diarrhoea v0.40 WNT2B Zornitza Stark Publications for gene: WNT2B were set to
Congenital Diarrhoea v0.39 WNT2B Zornitza Stark Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.38 WNT2B Zornitza Stark reviewed gene: WNT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909964; Phenotypes: Diarrhoea 9, MIM# 618168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Classified gene: STXBP2 as Green List (high evidence)
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.37 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Congenital Diarrhoea. Sources: Expert Review
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP2 were set to 23382066; 28724787; 29266534
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Enteropathy
Review for gene: STXBP2 was set to GREEN
Added comment: Variants in STXBP2 do not only affect cytotoxic T lymphocytes (causing HLH) but also cause changes in the intestinal epithelium resulting in severe, osmotic diarrhoea. More than 10 individuals reported with severe enteropathy, resembling MVID.
Sources: Expert Review
Mendeliome v0.5927 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Mendeliome v0.5927 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Mendeliome v0.5927 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, MIM# 251850; Cholestasis
Mendeliome v0.5926 MYO5B Zornitza Stark Publications for gene: MYO5B were set to
Mendeliome v0.5925 MYO5B Zornitza Stark Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5924 MYO5B Zornitza Stark reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 28027573, 27532546; Phenotypes: Microvillus inclusion disease, MIM# 251850, Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.36 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Congenital Diarrhoea v0.36 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.36 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, MIM# 251850
Congenital Diarrhoea v0.35 MYO5B Zornitza Stark Publications for gene: MYO5B were set to
Congenital Diarrhoea v0.34 MYO5B Zornitza Stark Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.33 MYO5B Zornitza Stark reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534; Phenotypes: Microvillus inclusion disease, MIM# 251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.33 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Abetalipoproteinemia, MIM# 200100 to Abetalipoproteinemia, MIM# 200100
Congenital Diarrhoea v0.33 MTTP Zornitza Stark Marked gene: MTTP as ready
Congenital Diarrhoea v0.33 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.33 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from to Abetalipoproteinemia, MIM# 200100
Congenital Diarrhoea v0.32 MTTP Zornitza Stark Publications for gene: MTTP were set to
Congenital Diarrhoea v0.31 MTTP Zornitza Stark Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.30 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5924 LCT Zornitza Stark Marked gene: LCT as ready
Mendeliome v0.5924 LCT Zornitza Stark Gene: lct has been classified as Green List (High Evidence).
Mendeliome v0.5924 LCT Zornitza Stark Phenotypes for gene: LCT were changed from to Lactase deficiency, congenital, MIM# 223000
Mendeliome v0.5923 LCT Zornitza Stark Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5922 LCT Zornitza Stark reviewed gene: LCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase deficiency, congenital, MIM# 223000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.30 LCT Zornitza Stark Marked gene: LCT as ready
Congenital Diarrhoea v0.30 LCT Zornitza Stark Gene: lct has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.30 LCT Zornitza Stark Phenotypes for gene: LCT were changed from to Lactase deficiency, congenital, MIM# 223000
Congenital Diarrhoea v0.29 LCT Zornitza Stark Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.28 LCT Zornitza Stark reviewed gene: LCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase deficiency, congenital, MIM# 223000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3371 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Intellectual disability syndromic and non-syndromic v0.3371 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3371 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Intellectual disability syndromic and non-syndromic v0.3371 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Microcephaly v0.518 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Microcephaly v0.518 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.83 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Congenital Heart Defect v0.83 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5922 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Mendeliome v0.5922 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.995 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Genetic Epilepsy v0.995 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.995 CAMK2B Zornitza Stark Classified gene: CAMK2B as Green List (high evidence)
Genetic Epilepsy v0.995 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.994 CAMK2B Zornitza Stark gene: CAMK2B was added
gene: CAMK2B was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2B were set to 29100089; 29560374; 32875707
Phenotypes for gene: CAMK2B were set to Mental retardation, autosomal dominant 54, MIM# 617799
Review for gene: CAMK2B was set to GREEN
Added comment: More than 10 unrelated individuals reported, at least 5 had seizures.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3371 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Intellectual disability syndromic and non-syndromic v0.3371 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3371 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from to Mental retardation, autosomal dominant 54, MIM# 617799
Intellectual disability syndromic and non-syndromic v0.3370 CAMK2B Zornitza Stark Publications for gene: CAMK2B were set to
Intellectual disability syndromic and non-syndromic v0.3369 CAMK2B Zornitza Stark Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3368 CAMK2B Zornitza Stark reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100089, 29560374, 32875707; Phenotypes: Mental retardation, autosomal dominant 54, MIM# 617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5922 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Mendeliome v0.5922 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Mendeliome v0.5922 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from to Mental retardation, autosomal dominant 54, MIM# 617799
Mendeliome v0.5921 CAMK2B Zornitza Stark Publications for gene: CAMK2B were set to
Mendeliome v0.5920 CAMK2B Zornitza Stark Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5919 CAMK2B Zornitza Stark reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100089, 29560374, 32875707; Phenotypes: Mental retardation, autosomal dominant 54, MIM# 617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.164 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.164 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.164 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM# 617799; microcephaly; intellectual disability; behavioural problems
Microcephaly v0.518 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Microcephaly v0.518 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Microcephaly v0.518 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM# 617799; microcephaly; intellectual disability; behavioural problems
Brain Calcification v1.3 LSM11 Ee Ming Wong reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33230297; Phenotypes: type I interferonopathy Aicardi–Goutières syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Brain Calcification v1.3 LSM11 Ee Ming Wong Deleted their review
Brain Calcification v1.3 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Brain Calcification. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling

(added as Red as per discussion with Seb)
Sources: Literature
Brain Calcification v1.3 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Brain Calcification. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3368 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to RED
Added comment: PMID: 32853829 - Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).
Sources: Literature
Dystonia and Chorea v0.159 RNU7-1 Sue White Classified gene: RNU7-1 as Green List (high evidence)
Dystonia and Chorea v0.159 RNU7-1 Sue White Gene: rnu7-1 has been classified as Green List (High Evidence).
Regression v0.230 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Regression. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
Review for gene: LSM11 was set to RED
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling

(added as Red as per discussion with Seb)
Sources: Literature
Regression v0.230 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Regression. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3368 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3368 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
Review for gene: LSM11 was set to RED
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling

(added as Red as per discussion with Seb)
Sources: Literature
Dystonia and Chorea v0.158 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Mendeliome v0.5919 FBRSL1 Sue White Classified gene: FBRSL1 as Green List (high evidence)
Mendeliome v0.5919 FBRSL1 Sue White Gene: fbrsl1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Marked gene: RPL3L as ready
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Classified gene: RPL3L as Green List (high evidence)
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Congenital Heart Defect v0.83 RPL3L Elena Savva Deleted their review
Hereditary Spastic Paraplegia v0.157 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Genetic Epilepsy v0.993 RALGAPB Seb Lunke Marked gene: RALGAPB as ready
Genetic Epilepsy v0.993 RALGAPB Seb Lunke Gene: ralgapb has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.993 RALGAPB Seb Lunke Classified gene: RALGAPB as Amber List (moderate evidence)
Genetic Epilepsy v0.993 RALGAPB Seb Lunke Gene: ralgapb has been classified as Amber List (Moderate Evidence).
Autism v0.128 RALGAPB Seb Lunke Marked gene: RALGAPB as ready
Autism v0.128 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Autism v0.128 RALGAPB Seb Lunke Classified gene: RALGAPB as Green List (high evidence)
Autism v0.128 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.89 RPL3L Elena Savva gene: RPL3L was added
gene: RPL3L was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: RPL3L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL3L were set to PMID: 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Mendeliome v0.5918 RALGAPB Seb Lunke Marked gene: RALGAPB as ready
Mendeliome v0.5918 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Mendeliome v0.5918 RALGAPB Seb Lunke Classified gene: RALGAPB as Green List (high evidence)
Mendeliome v0.5918 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.992 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to AMBER
Added comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.
Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense, epilepsy only present in 2/10.
Sources: Literature
Autism v0.127 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Autism. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to GREEN
Added comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.
Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).
Functional studies of patient cells show reduced mRNA expression (PTC).
Sources: Literature
Mendeliome v0.5917 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to GREEN
Added comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.
Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).
Functional studies of patient cells show reduced mRNA expression (PTC).
Sources: Literature
Hypertension and Aldosterone disorders v0.18 WNK1 Seb Lunke Marked gene: WNK1 as ready
Hypertension and Aldosterone disorders v0.18 WNK1 Seb Lunke Gene: wnk1 has been classified as Green List (High Evidence).
Mendeliome v0.5917 RPL3L Seb Lunke Marked gene: RPL3L as ready
Mendeliome v0.5917 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Mendeliome v0.5917 RPL3L Seb Lunke Classified gene: RPL3L as Green List (high evidence)
Mendeliome v0.5917 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Microcephaly v0.517 FBRSL1 Sue White Classified gene: FBRSL1 as Green List (high evidence)
Microcephaly v0.517 FBRSL1 Sue White Gene: fbrsl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3368 FBRSL1 Sue White Classified gene: FBRSL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3368 FBRSL1 Sue White Gene: fbrsl1 has been classified as Green List (High Evidence).
Mendeliome v0.5916 LSM11 Seb Lunke changed review comment from: Comment on list classification: Very little evidence at this stage, just one consanguineous family with a some functional data.; to: Comment on list classification: Very little evidence at this stage, just one consanguineous family with some functional data.
Mendeliome v0.5916 LSM11 Seb Lunke Marked gene: LSM11 as ready
Mendeliome v0.5916 LSM11 Seb Lunke Gene: lsm11 has been classified as Red List (Low Evidence).
Mendeliome v0.5916 LSM11 Seb Lunke Classified gene: LSM11 as Red List (low evidence)
Mendeliome v0.5916 LSM11 Seb Lunke Added comment: Comment on list classification: Very little evidence at this stage, just one consanguineous family with a some functional data.
Mendeliome v0.5916 LSM11 Seb Lunke Gene: lsm11 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.43 FBRSL1 Sue White reviewed gene: FBRSL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3367 DPH2 Paul De Fazio gene: DPH2 was added
gene: DPH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DPH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH2 were set to 32576952; 27421267
Phenotypes for gene: DPH2 were set to Diphthamide-deficiency syndrome
Review for gene: DPH2 was set to AMBER
gene: DPH2 was marked as current diagnostic
Added comment: One 19 month old reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency (gross motor delay, not walking, fine motor and expressive language delays, macrocephaly)

Another family (sibs) was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative. Patients had ID and microcephaly (in contrast to the 19 month old above).

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature
Congenital Heart Defect v0.83 FBRSL1 Sue White Classified gene: FBRSL1 as Amber List (moderate evidence)
Congenital Heart Defect v0.83 FBRSL1 Sue White Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5915 DPH2 Seb Lunke Marked gene: DPH2 as ready
Mendeliome v0.5915 DPH2 Seb Lunke Gene: dph2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5915 DPH2 Seb Lunke Classified gene: DPH2 as Amber List (moderate evidence)
Mendeliome v0.5915 DPH2 Seb Lunke Gene: dph2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5914 RNU7-1 Ee Ming Wong changed review comment from: - 16 affected individuals from 11 families
- - Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature; to: - 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Mendeliome v0.5914 RNU7-1 Ee Ming Wong gene: RNU7-1 was added
gene: RNU7-1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to PMID: 33230297
Phenotypes for gene: RNU7-1 were set to PMID: 33230297
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: - 16 affected individuals from 11 families
- - Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Congenital Heart Defect v0.82 RPL3L Elena Savva gene: RPL3L was added
gene: RPL3L was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to PMID: 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Hypertension and Aldosterone disorders v0.18 WNK1 Teresa Zhao reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32790646; Phenotypes: Pseudohypoaldosteronism type IIC (MIM#614492), Hereditary sensory and autonomic type II neuropathy (MIM#201300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5914 RPL3L Elena Savva gene: RPL3L was added
gene: RPL3L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to PMID: 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Mendeliome v0.5914 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
Review for gene: LSM11 was set to AMBER
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3367 EIF2AK2 Seb Lunke reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5914 DPH2 Paul De Fazio changed review comment from: One family reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency.

Another family was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative.

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature; to: One 19 month old reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency (gross motor delay, not walking, fine motor and expressive language delays, macrocephaly)

Another family (sibs) was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative. Patients had ID and microcephaly (in contrast to the 19 month old above).

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature
Congenital Heart Defect v0.82 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to AMBER
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.
2/3 had heart defects, cleft palate and hearing impairment.
Variant pathogenicity supported by Xenopus oocyte functional studies
Sources: Literature
Deafness_IsolatedAndComplex v1.43 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to AMBER
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.
2/3 had heart defects, cleft palate and hearing impairment.
Variant pathogenicity supported by Xenopus oocyte functional studies
Sources: Literature
Mendeliome v0.5914 DPH2 Paul De Fazio gene: DPH2 was added
gene: DPH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DPH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH2 were set to 32576952; 27421267
Phenotypes for gene: DPH2 were set to Diphthamide-deficiency syndrome
Review for gene: DPH2 was set to AMBER
gene: DPH2 was marked as current diagnostic
Added comment: One family reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency.

Another family was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative.

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3367 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to GREEN
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairement.
Supported by Xenopus oocyte functional studies
Sources: Literature
Microcephaly v0.516 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to GREEN
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairment.
Supported by Xenopus oocyte functional studies
Sources: Literature
Mendeliome v0.5914 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to GREEN
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairement.
Supported by Xenopus oocyte functional studies
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.163 CAMK2B Sue White Classified gene: CAMK2B as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.163 CAMK2B Sue White Gene: camk2b has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.162 CAMK2B Sue White gene: CAMK2B was added
gene: CAMK2B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2B were set to 32875707
Phenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems
Review for gene: CAMK2B was set to GREEN
Added comment: A review of published patients with CAMK2B reported 3 patients with de novo variants and cerebellar atrophy.
Sources: Literature
Microcephaly v0.516 CAMK2B Sue White Classified gene: CAMK2B as Green List (high evidence)
Microcephaly v0.516 CAMK2B Sue White Gene: camk2b has been classified as Green List (High Evidence).
Microcephaly v0.515 CAMK2B Sue White gene: CAMK2B was added
gene: CAMK2B was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2B were set to 32875707
Phenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems
Review for gene: CAMK2B was set to GREEN
Added comment: 5 individuals in review of literature with same de novo monoallelic variant reported with microcephaly
Sources: Literature
Congenital Diarrhoea v0.28 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Congenital Diarrhoea v0.28 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.28 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790
Congenital Diarrhoea v0.27 FOXP3 Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Diarrhoea v0.26 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Diarrhoea v0.26 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Congenital Diarrhoea v0.26 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.26 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Mendeliome v0.5914 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Mendeliome v0.5914 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Mendeliome v0.5914 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Mendeliome v0.5913 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Mendeliome v0.5912 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.25 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Mendeliome v0.5911 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.24 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.23 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5911 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Mendeliome v0.5911 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Mendeliome v0.5911 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
Mendeliome v0.5910 DGAT1 Zornitza Stark Publications for gene: DGAT1 were set to
Mendeliome v0.5909 DGAT1 Zornitza Stark Mode of inheritance for gene: DGAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5908 DGAT1 Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.23 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Congenital Diarrhoea v0.23 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.23 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
Congenital Diarrhoea v0.22 DGAT1 Zornitza Stark Publications for gene: DGAT1 were set to
Congenital Diarrhoea v0.21 DGAT1 Zornitza Stark Mode of inheritance for gene: DGAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.20 DGAT1 Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.20 CFTR Zornitza Stark Marked gene: CFTR as ready
Congenital Diarrhoea v0.20 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.20 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700
Congenital Diarrhoea v0.19 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.18 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
Congenital Diarrhoea v0.18 APOB Zornitza Stark Marked gene: APOB as ready
Congenital Diarrhoea v0.18 APOB Zornitza Stark Gene: apob has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.18 APOB Zornitza Stark Phenotypes for gene: APOB were changed from to Hypobetalipoproteinemia, MIM# 615558
Congenital Diarrhoea v0.17 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.16 APOB Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypobetalipoproteinemia, MIM# 615558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.16 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital Diarrhoea v0.15 AIRE Zornitza Stark edited their review of gene: AIRE: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Diarrhoea v0.15 AIRE Zornitza Stark Marked gene: AIRE as ready
Congenital Diarrhoea v0.15 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.15 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Congenital Diarrhoea v0.14 AIRE Zornitza Stark Publications for gene: AIRE were set to
Congenital Diarrhoea v0.13 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Diarrhoea v0.12 AIRE Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 9398839, 9837820, 16965330; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: None
Central Hypoventilation v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5908 CPA6 Zornitza Stark Marked gene: CPA6 as ready
Mendeliome v0.5908 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5908 CPA6 Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418
Mendeliome v0.5907 CPA6 Zornitza Stark Publications for gene: CPA6 were set to
Mendeliome v0.5906 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5905 CPA6 Zornitza Stark Classified gene: CPA6 as Amber List (moderate evidence)
Mendeliome v0.5905 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5904 CPA6 Zornitza Stark edited their review of gene: CPA6: Added comment: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Present in gnomad as hets but no homs. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease: variants reported have high frequency in gnomad, not in keeping with Mendelian disorder.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.992 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.991 CPA6 Zornitza Stark Classified gene: CPA6 as Amber List (moderate evidence)
Genetic Epilepsy v0.991 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.990 CPA6 Zornitza Stark changed review comment from: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease.; to: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Present in gnomad as hets but no homs. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease.
Genetic Epilepsy v0.990 CPA6 Zornitza Stark edited their review of gene: CPA6: Added comment: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.990 CPA6 Elena Savva reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: PMID:25875328, 21922598, 23105115, 32207733; Phenotypes: Epilepsy, familial temporal lobe, 5 MIM#614417, Febrile seizures, familial, 11 MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v1.0 Zornitza Stark promoted panel to version 1.0
Fatty Acid Oxidation Defects v0.81 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Fatty Acid Oxidation Defects v0.81 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Regression v0.230 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Regression v0.230 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Regression v0.230 HSD17B10 Zornitza Stark Classified gene: HSD17B10 as Green List (high evidence)
Regression v0.230 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Regression v0.229 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease, MIM# 300438
Review for gene: HSD17B10 was set to GREEN
Added comment: HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Multiple unrelated families reported.
Sources: Expert Review
Mendeliome v0.5904 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Mendeliome v0.5904 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Mendeliome v0.5904 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438
Mendeliome v0.5903 HSD17B10 Zornitza Stark Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fatty Acid Oxidation Defects v0.81 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease, MIM# 300438 to HSD10 mitochondrial disease, MIM# 300438
Mendeliome v0.5902 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fatty Acid Oxidation Defects v0.80 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438
Fatty Acid Oxidation Defects v0.79 HSD17B10 Zornitza Stark Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fatty Acid Oxidation Defects v0.78 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5902 HMGCS2 Zornitza Stark Marked gene: HMGCS2 as ready
Mendeliome v0.5902 HMGCS2 Zornitza Stark Gene: hmgcs2 has been classified as Green List (High Evidence).
Mendeliome v0.5902 HMGCS2 Zornitza Stark Phenotypes for gene: HMGCS2 were changed from to HMG-CoA synthase-2 deficiency, MIM# 605911
Mendeliome v0.5901 HMGCS2 Zornitza Stark Publications for gene: HMGCS2 were set to
Mendeliome v0.5900 HMGCS2 Zornitza Stark Mode of inheritance for gene: HMGCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5899 HMGCS2 Zornitza Stark reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33045405; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.78 HMGCS2 Zornitza Stark Marked gene: HMGCS2 as ready
Fatty Acid Oxidation Defects v0.78 HMGCS2 Zornitza Stark Gene: hmgcs2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.78 HMGCS2 Zornitza Stark Phenotypes for gene: HMGCS2 were changed from to HMG-CoA synthase-2 deficiency, MIM# 605911
Fatty Acid Oxidation Defects v0.77 HMGCS2 Zornitza Stark Publications for gene: HMGCS2 were set to
Fatty Acid Oxidation Defects v0.76 HMGCS2 Zornitza Stark Mode of inheritance for gene: HMGCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.75 HMGCS2 Zornitza Stark reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33045405; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5899 HMGCL Zornitza Stark Tag SV/CNV tag was added to gene: HMGCL.
Mendeliome v0.5899 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Mendeliome v0.5899 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Mendeliome v0.5899 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450
Mendeliome v0.5898 HMGCL Zornitza Stark Publications for gene: HMGCL were set to
Mendeliome v0.5897 HMGCL Zornitza Stark Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Tag SV/CNV tag was added to gene: HMGCL.
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, MIM# 246450 to HMG-CoA lyase deficiency, MIM# 246450
Mendeliome v0.5896 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8617516; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450
Fatty Acid Oxidation Defects v0.74 HMGCL Zornitza Stark Publications for gene: HMGCL were set to
Fatty Acid Oxidation Defects v0.73 HMGCL Zornitza Stark Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.72 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8617516; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.32 PDCL3 Shannon LeBlanc gene: PDCL3 was added
gene: PDCL3 was added to Gastrointestinal neuromuscular disease. Sources: Literature
Mode of inheritance for gene: PDCL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCL3 were set to PMID: 32621347
Phenotypes for gene: PDCL3 were set to megacystis-microcolon
Review for gene: PDCL3 was set to AMBER
Added comment: Single publication (PMID 32621347): one family with two affected fetuses - one with megacystis and microcolon, and the other with megacystisis and bilateral diaphragmatic hernia (prune-belly phenotype). Compound het LOF variants in PDCL3 (one frameshift and one missense). Complete absence of PDLC3 expression demonstrated in one of the affected fetuses.

No homozygous LOF PDCL3 variants in gnomAD.
PCDL3 negatively modulates actin folding and is strongly expressed in smooth muscle of bladder and colon.
Sources: Literature
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark changed review comment from: The HADHA (600890) and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity.

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. Peripheral neuropathy also reported.

Well established gene-disease association.; to: The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity.

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. Peripheral neuropathy also reported.

Well established gene-disease association.
Fatty Acid Oxidation Defects v0.72 HADHA Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity. 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.
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark Marked gene: HADHB as ready
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM# 609015
Fatty Acid Oxidation Defects v0.71 HADHB Zornitza Stark Publications for gene: HADHB were set to
Fatty Acid Oxidation Defects v0.70 HADHB Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.69 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30682426, 28515471; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.69 HADHA Zornitza Stark Marked gene: HADHA as ready
Fatty Acid Oxidation Defects v0.69 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.69 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016
Fatty Acid Oxidation Defects v0.68 HADHA Zornitza Stark Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.67 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.67 HADH Zornitza Stark Marked gene: HADH as ready
Fatty Acid Oxidation Defects v0.67 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.67 HADH Zornitza Stark Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency, MONDO:0009278
Fatty Acid Oxidation Defects v0.66 HADH Zornitza Stark Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency
Fatty Acid Oxidation Defects v0.65 HADH Zornitza Stark Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.64 HADH Zornitza Stark reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.64 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Fatty Acid Oxidation Defects v0.64 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.64 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from to VLCAD deficiency, MIM# 201475
Fatty Acid Oxidation Defects v0.63 ACADVL Zornitza Stark Mode of inheritance for gene: ACADVL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.62 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5896 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Mendeliome v0.5896 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Mendeliome v0.5896 GLUD1 Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Mendeliome v0.5895 GLUD1 Zornitza Stark Publications for gene: GLUD1 were set to
Mendeliome v0.5894 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5893 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11214910, 11297618; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM# 606762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.62 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Fatty Acid Oxidation Defects v0.62 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.62 GLUD1 Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Fatty Acid Oxidation Defects v0.61 GLUD1 Zornitza Stark Publications for gene: GLUD1 were set to
Fatty Acid Oxidation Defects v0.60 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.59 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11214910, 11297618; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM# 606762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.59 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Fatty Acid Oxidation Defects v0.59 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.59 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM# 231680
Fatty Acid Oxidation Defects v0.58 ETFDH Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.57 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.57 ETFB Zornitza Stark Marked gene: ETFB as ready
Fatty Acid Oxidation Defects v0.57 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.57 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM# 231680
Fatty Acid Oxidation Defects v0.56 ETFB Zornitza Stark Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.55 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
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark commented on gene: ETFA: 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.
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark Marked gene: ETFA as ready
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM# 231680
Fatty Acid Oxidation Defects v0.54 ETFA Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.53 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
Fatty Acid Oxidation Defects v0.53 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Fatty Acid Oxidation Defects v0.53 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.53 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Fatty Acid Oxidation Defects v0.52 CPT2 Zornitza Stark Mode of inheritance for gene: CPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.51 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; 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
Fatty Acid Oxidation Defects v0.51 CPT1A Zornitza Stark Marked gene: CPT1A as ready
Fatty Acid Oxidation Defects v0.51 CPT1A Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.51 CPT1A Zornitza Stark Phenotypes for gene: CPT1A were changed from to CPT deficiency, hepatic, type IA, MIM# 255120
Fatty Acid Oxidation Defects v0.50 CPT1A Zornitza Stark Publications for gene: CPT1A were set to
Fatty Acid Oxidation Defects v0.49 CPT1A Zornitza Stark Mode of inheritance for gene: CPT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.48 CPT1A Zornitza Stark reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5893 CFAP58 Zornitza Stark Phenotypes for gene: CFAP58 were changed from Multiple morphological abnormalities of the sperm flagella (MMAF) to Spermatogenic failure 49, MIM#619144; Multiple morphological abnormalities of the sperm flagella (MMAF)
Mendeliome v0.5892 CFAP58 Zornitza Stark reviewed gene: CFAP58: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 49, MIM#619144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.18 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Lipodystrophy_Lipoatrophy v0.18 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.18 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from to Lipodystrophy, congenital generalized, type 1, MIM# 608594
Lipodystrophy_Lipoatrophy v0.17 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to 32876150; 11967537
Lipodystrophy_Lipoatrophy v0.17 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to
Lipodystrophy_Lipoatrophy v0.16 AGPAT2 Zornitza Stark Mode of inheritance for gene: AGPAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.15 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32876150, 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5892 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to 32876150
Mendeliome v0.5891 AGPAT2 Zornitza Stark Tag SV/CNV tag was added to gene: AGPAT2.
Mendeliome v0.5891 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5891 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Mendeliome v0.5891 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Green List (High Evidence).
Mendeliome v0.5891 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from to Lipodystrophy, congenital generalized, type 1 MIM#608594
Mendeliome v0.5890 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to
Mendeliome v0.5889 AGPAT2 Zornitza Stark Mode of inheritance for gene: AGPAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5888 AGPAT2 Elena Savva reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32876150; Phenotypes: Lipodystrophy, congenital generalized, type 1 MIM#608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5888 LPIN1 Zornitza Stark Marked gene: LPIN1 as ready
Mendeliome v0.5888 LPIN1 Zornitza Stark Gene: lpin1 has been classified as Green List (High Evidence).
Mendeliome v0.5888 LPIN1 Zornitza Stark Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200
Mendeliome v0.5887 LPIN1 Zornitza Stark Publications for gene: LPIN1 were set to
Mendeliome v0.5886 LPIN1 Zornitza Stark Mode of inheritance for gene: LPIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5885 LPIN1 Zornitza Stark reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891, 32522502, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.48 LPIN1 Zornitza Stark Marked gene: LPIN1 as ready
Fatty Acid Oxidation Defects v0.48 LPIN1 Zornitza Stark Gene: lpin1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.48 LPIN1 Zornitza Stark Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200
Fatty Acid Oxidation Defects v0.47 LPIN1 Zornitza Stark Publications for gene: LPIN1 were set to
Fatty Acid Oxidation Defects v0.46 LPIN1 Zornitza Stark Mode of inheritance for gene: LPIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.45 LPIN1 Zornitza Stark reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891, 32522502, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.45 TAZ Zornitza Stark Marked gene: TAZ as ready
Fatty Acid Oxidation Defects v0.45 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.45 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Fatty Acid Oxidation Defects v0.44 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3367 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Intellectual disability syndromic and non-syndromic v0.3367 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3367 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Intellectual disability syndromic and non-syndromic v0.3366 MLYCD Zornitza Stark Publications for gene: MLYCD were set to
Intellectual disability syndromic and non-syndromic v0.3365 MLYCD Zornitza Stark Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3364 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5885 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Mendeliome v0.5885 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Mendeliome v0.5885 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Mendeliome v0.5884 MLYCD Zornitza Stark Publications for gene: MLYCD were set to
Mendeliome v0.5883 MLYCD Zornitza Stark Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5882 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.43 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Fatty Acid Oxidation Defects v0.43 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.43 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Fatty Acid Oxidation Defects v0.42 MLYCD Zornitza Stark Publications for gene: MLYCD were set to
Fatty Acid Oxidation Defects v0.41 MLYCD Zornitza Stark Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.40 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5882 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Mendeliome v0.5882 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Green List (High Evidence).
Mendeliome v0.5882 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM# 212138
Mendeliome v0.5881 SLC25A20 Zornitza Stark Publications for gene: SLC25A20 were set to
Mendeliome v0.5880 SLC25A20 Zornitza Stark Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5879 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15363639, 15365988, 24088670; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.40 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Fatty Acid Oxidation Defects v0.40 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.40 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM# 212138
Fatty Acid Oxidation Defects v0.39 SLC25A20 Zornitza Stark Publications for gene: SLC25A20 were set to
Fatty Acid Oxidation Defects v0.38 SLC25A20 Zornitza Stark Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.37 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15363639, 15365988, 24088670; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.36 TAZ Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy v0.97 SETX Zornitza Stark Marked gene: SETX as ready
Hereditary Neuropathy v0.97 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.97 SETX Zornitza Stark Phenotypes for gene: SETX were changed from dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 to dHMN/dSMA; Amyotrophic lateral sclerosis 4, juvenile MIM# 602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary Neuropathy v0.96 SETX Zornitza Stark Publications for gene: SETX were set to
Hereditary Neuropathy v0.95 SETX Zornitza Stark Mode of inheritance for gene: SETX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.94 SETX Zornitza Stark reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.94 SETX Elena Savva reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23129421, 16644229, 30052327; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5879 GABRD Zornitza Stark Marked gene: GABRD as ready
Mendeliome v0.5879 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Mendeliome v0.5879 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from to Susceptibility to epilepsy, MIM#613060
Mendeliome v0.5878 GABRD Zornitza Stark Publications for gene: GABRD were set to
Mendeliome v0.5877 GABRD Zornitza Stark Mode of inheritance for gene: GABRD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5876 GABRD Zornitza Stark Classified gene: GABRD as Red List (low evidence)
Mendeliome v0.5876 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Mendeliome v0.5875 GABRD Zornitza Stark reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: None; Publications: 15115768; Phenotypes: Susceptibility to epilepsy, MIM#613060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.87 GABRD Zornitza Stark Marked gene: GABRD as ready
Neurotransmitter Defects v0.87 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.87 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from to Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v0.86 GABRD Zornitza Stark Publications for gene: GABRD were set to
Neurotransmitter Defects v0.85 GABRD Zornitza Stark Mode of inheritance for gene: GABRD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.84 GABRD Zornitza Stark Classified gene: GABRD as Red List (low evidence)
Neurotransmitter Defects v0.84 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.83 GABRD Zornitza Stark reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: None; Publications: 15115768; Phenotypes: Susceptibility to epilepsy, MIM#613060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5875 SPR Zornitza Stark Marked gene: SPR as ready
Mendeliome v0.5875 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Mendeliome v0.5875 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Mendeliome v0.5874 SPR Zornitza Stark Publications for gene: SPR were set to
Mendeliome v0.5873 SPR Zornitza Stark edited their review of gene: SPR: Changed publications: 22522443, 16650784, 21431957, 28189489
Mendeliome v0.5873 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.80 SPR Zornitza Stark Marked gene: SPR as ready
Brain Channelopathies v0.80 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Brain Channelopathies v0.80 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Brain Channelopathies v0.79 SPR Zornitza Stark Publications for gene: SPR were set to
Brain Channelopathies v0.78 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.77 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443, 16650784, 21431957, 28189489; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.77 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Brain Channelopathies v0.77 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Brain Channelopathies v0.77 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618
Brain Channelopathies v0.76 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Brain Channelopathies v0.75 SLC6A5 Zornitza Stark Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v0.74 SLC6A5 Zornitza Stark reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v0.74 SLC2A1 Zornitza Stark edited their review of gene: SLC2A1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Brain Channelopathies v0.74 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Brain Channelopathies v0.74 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Brain Channelopathies v0.74 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1-deficiency syndrome, MONDO:0000188; Dystonia 9 601042; GLUT1 deficiency syndrome 1, infantile onset, severe 606777; GLUT1 deficiency syndrome 2, childhood onset 612126; Stomatin-deficient cryohydrocytosis with neurologic defects 608885
Brain Channelopathies v0.73 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Brain Channelopathies v0.72 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.71 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32913944; Phenotypes: GLUT1-deficiency syndrome, MONDO:0000188, Dystonia 9 601042, GLUT1 deficiency syndrome 1, infantile onset, severe 606777, GLUT1 deficiency syndrome 2, childhood onset 612126, Stomatin-deficient cryohydrocytosis with neurologic defects 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.70 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Brain Channelopathies v0.70 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Brain Channelopathies v0.70 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Brain Channelopathies v0.69 ATP7B Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.68 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.68 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Brain Channelopathies v0.68 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Brain Channelopathies v0.68 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634
Brain Channelopathies v0.67 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.66 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dravet syndrome 607208, Epilepsy, generalized, with febrile seizures plus, type 2 604403, Febrile seizures, familial, 3A 604403, Migraine, familial hemiplegic, 3 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.66 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.91 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Paroxysmal Dyskinesia v0.91 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.91 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Paroxysmal Dyskinesia v0.90 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Paroxysmal Dyskinesia v0.89 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.89 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.88 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5872 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Mendeliome v0.5872 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Mendeliome v0.5872 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Mendeliome v0.5871 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Brain Channelopathies v0.65 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v0.65 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Brain Channelopathies v0.65 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Mendeliome v0.5870 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v0.65 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5869 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5869 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.64 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Brain Channelopathies v0.63 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Brain Channelopathies v0.62 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.61 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.61 PNKD Zornitza Stark Marked gene: PNKD as ready
Brain Channelopathies v0.61 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Brain Channelopathies v0.61 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
Brain Channelopathies v0.60 PNKD Zornitza Stark Publications for gene: PNKD were set to
Brain Channelopathies v0.59 PNKD Zornitza Stark Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.58 PNKD Zornitza Stark reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15496428; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.88 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Paroxysmal Dyskinesia v0.88 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.88 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Paroxysmal Dyskinesia v0.87 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Paroxysmal Dyskinesia v0.86 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.85 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3364 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Intellectual disability syndromic and non-syndromic v0.3364 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3364 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Intellectual disability syndromic and non-syndromic v0.3363 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Intellectual disability syndromic and non-syndromic v0.3362 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3361 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.990 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Genetic Epilepsy v0.990 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.990 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Genetic Epilepsy v0.989 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Genetic Epilepsy v0.988 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.987 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5869 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Mendeliome v0.5869 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Mendeliome v0.5869 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Mendeliome v0.5868 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Mendeliome v0.5867 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.58 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Mendeliome v0.5866 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.57 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Brain Channelopathies v0.56 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.55 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.55 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Brain Channelopathies v0.55 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Brain Channelopathies v0.55 KCNQ2 Zornitza Stark Phenotypes for gene: KCNQ2 were changed from to Myokymia, MIM# 121200; Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720
Brain Channelopathies v0.54 KCNQ2 Zornitza Stark Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.53 KCNQ2 Zornitza Stark reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myokymia, MIM# 121200, Seizures, benign neonatal, 1, MIM# 121200, Developmental and epileptic encephalopathy 7, MIM# 613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3361 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3360 PRKACB Zornitza Stark reviewed gene: PRKACB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.184 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Polydactyly v0.183 PRKACB Zornitza Stark reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: None
Ciliopathies v0.221 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mendeliome v0.5866 PRKACB Zornitza Stark Marked gene: PRKACB as ready
Mendeliome v0.5866 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Mendeliome v0.5866 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mendeliome v0.5865 PRKACB Zornitza Stark reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: None
Ciliopathies v0.220 PRKACB Zornitza Stark edited their review of gene: PRKACB: Changed phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143, Postaxial hand polydactyly, Postaxial foot polydactyly, Common atrium, Atrioventricular canal defect, Narrow chest, Abnormality of the teeth, Intellectual disability
Congenital Heart Defect v0.82 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Congenital Heart Defect v0.81 PRKACB Zornitza Stark reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.183 PRKACA Zornitza Stark Marked gene: PRKACA as ready
Polydactyly v0.183 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Polydactyly v0.183 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Polydactyly v0.182 PRKACA Zornitza Stark reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: None
Mendeliome v0.5865 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mendeliome v0.5864 PRKACA Zornitza Stark reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.220 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Ciliopathies v0.219 PRKACA Zornitza Stark edited their review of gene: PRKACA: Changed phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142, Postaxial hand polydactyly, Postaxial foot polydactyly, Common atrium, Atrioventricular canal defect, Narrow chest, Abnormality of the teeth, Intellectual disability
Congenital Heart Defect v0.81 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Congenital Heart Defect v0.80 PRKACA Zornitza Stark reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.53 CACNA1S Zornitza Stark Classified gene: CACNA1S as Red List (low evidence)
Brain Channelopathies v0.53 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Red List (Low Evidence).
Brain Channelopathies v0.52 CACNA1S Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association but a skeletal muscle channelopathy.
Brain Channelopathies v0.52 CACNA1S Zornitza Stark edited their review of gene: CACNA1S: Changed rating: RED
Brain Channelopathies v0.52 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Brain Channelopathies v0.52 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Brain Channelopathies v0.52 CACNA1S Zornitza Stark Phenotypes for gene: CACNA1S were changed from to Hypokalemic periodic paralysis, type 1, MIM# 170400
Brain Channelopathies v0.51 CACNA1S Zornitza Stark Publications for gene: CACNA1S were set to
Brain Channelopathies v0.50 CACNA1S Zornitza Stark Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.49 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.49 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready