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Incidentalome_PREGEN_DRAFT v0.3 BRCA2 Tony Roscioli reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BRCA1 Tony Roscioli commented on gene: BRCA1: A cause of a Mendelian disorder that could present in fetal life - however needs discussion
Incidentalome_PREGEN_DRAFT v0.3 BRCA1 Tony Roscioli reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BRAF Tony Roscioli reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BMPR1A Tony Roscioli reviewed gene: BMPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BIRC3 Tony Roscioli reviewed gene: BIRC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BCL6 Tony Roscioli reviewed gene: BCL6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BCL2 Tony Roscioli reviewed gene: BCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ATP7B Tony Roscioli reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ATM Tony Roscioli reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ARL11 Tony Roscioli reviewed gene: ARL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ACTC1 Tony Roscioli changed review comment from: A cause of a Mendelian disorder that could present in fetal life; to: A cause of a Mendelian disorder that could present in childhood
Incidentalome_PREGEN_DRAFT v0.3 ACTC1 Tony Roscioli reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ACTA2 Tony Roscioli reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ABL1 Tony Roscioli reviewed gene: ABL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 FGFR1 Tony Roscioli reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.939 WWOX Teresa Zhao reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30356099, 29808465; Phenotypes: Developmental and epileptic encephalopathy 28 (MIM#616211), Spinocerebellar ataxia 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5527 HIVEP2 Elena Savva reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31207095; Phenotypes: Mental retardation, autosomal dominant 43 MIM#616977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Marked Region: ISCA-37430-Loss as ready
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Region: isca-37430-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Classified Region: ISCA-37430-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Region: isca-37430-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.114 ISCA-37430-Loss Zornitza Stark Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Review for Region: ISCA-37430-Loss was set to GREEN
Added comment: Well established CNV, LIS1 gene deletion associated with lissencephaly.
Sources: Expert list
Mendeliome v0.5527 PRPS1 Elena Savva reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32781272, 17701896, 7593598; Phenotypes: Arts syndrome MIM#301835, Charcot-Marie-Tooth disease, X-linked recessive, 5 MIM#311070, Deafness, X-linked 1 MIM#304500, Gout, PRPS-related MIM#300661, Phosphoribosylpyrophosphate synthetase superactivity MIM#300661; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.939 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Genetic Epilepsy v0.939 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.939 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Genetic Epilepsy v0.939 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.938 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Microcephaly v0.501 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Microcephaly v0.501 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Microcephaly v0.501 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Microcephaly v0.501 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Microcephaly v0.500 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.5 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Mendeliome v0.5527 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Mendeliome v0.5527 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Mendeliome v0.5527 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Mendeliome v0.5527 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Mendeliome v0.5526 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Early-onset Dementia v0.130 ATP7B Bryony Thompson edited their review of gene: ATP7B: Changed publications: 26758278, 25988284
Mendeliome v0.5525 ALDH7A1 Eleanor Williams reviewed gene: ALDH7A1: Rating: ; Mode of pathogenicity: None; Publications: 32969477; Phenotypes: ; Mode of inheritance: None
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Marked Region: ISCA-37430-Gain as ready
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Region: isca-37430-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Classified Region: ISCA-37430-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Region: isca-37430-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.112 ISCA-37430-Gain Zornitza Stark Region: ISCA-37430-Gain was added
Region: ISCA-37430-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37430-Gain.
Mode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Gain were set to Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215; intellectual disability
Review for Region: ISCA-37430-Gain was set to GREEN
Added comment: Well established CNV, involving the LIS1 and/or YWHAE genes. Individuals with LIS1 duplications have brain abnormalities, including microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tend to have macrosomia, facial dysmorphism, and mild developmental delay.
Sources: Expert list
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Marked Region: ISCA-37429-Loss as ready
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Classified Region: ISCA-37429-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.110 ISCA-37429-Loss Zornitza Stark Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37429-Loss.
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features
Review for Region: ISCA-37429-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark edited their review of Region: ISCA-37425-Loss: Changed phenotypes: Sotos syndrome, chromosome 5q35 deletion, intellectual disability, overgrowth
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark Marked Region: ISCA-37425-Loss as ready
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark Phenotypes for Region: ISCA-37425-Loss were changed from to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth
Common deletion and duplication syndromes v0.108 ISCA-37425-Loss Zornitza Stark Classified Region: ISCA-37425-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.108 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.107 ISCA-37425-Loss Zornitza Stark Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37425-Loss.
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Loss were set to 23190751; 19596467
Review for Region: ISCA-37425-Loss was set to GREEN
Added comment: Deletions of NSD1 are a common cause of Sotos syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Marked Region: ISCA-37425-Gain as ready
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Classified Region: ISCA-37425-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.105 ISCA-37425-Gain Zornitza Stark Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37425-Gain.
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Gain were set to 24819041
Phenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures
Review for Region: ISCA-37425-Gain was set to GREEN
Added comment: Reciprocal duplication including NSD1, supporting gene dosage effect of NSD1 on growth regulation and neurological function.
Sources: Expert list
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Marked Region: ISCA-37424-Loss as ready
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Classified Region: ISCA-37424-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.103 ISCA-37424-Loss Zornitza Stark Region: ISCA-37424-Loss was added
Region: ISCA-37424-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37424-Loss.
Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37424-Loss were set to 20345475; 25846706
Phenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly
Review for Region: ISCA-37424-Loss was set to GREEN
Added comment: Established CNV. Note deletions typically include BMPR1A and sometimes PTEN, which have implications for cancer surveillance.
Sources: Expert list
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Marked Region: ISCA-37423-Loss as ready
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Region: isca-37423-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Classified Region: ISCA-37423-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Region: isca-37423-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.101 ISCA-37423-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37423-Loss.
Common deletion and duplication syndromes v0.101 ISCA-37423-Loss Zornitza Stark Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay
Review for Region: ISCA-37423-Loss was set to GREEN
Added comment: Well established CNV. Deletion of GATA4 linked to congenital heart defects.
Sources: Expert list
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Marked Region: ISCA-37423-Gain as ready
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Classified Region: ISCA-37423-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.99 ISCA-37423-Gain Zornitza Stark Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37423-Gain.
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754
Phenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease
Review for Region: ISCA-37423-Gain was set to GREEN
Added comment: Well established CNV. Duplication of GATA4 is thought to be responsible for the association with congenital heart disease.
Sources: Expert list
Common deletion and duplication syndromes v0.98 ISCA-37446-Gain Zornitza Stark Marked Region: ISCA-37446-Gain as ready
Common deletion and duplication syndromes v0.98 ISCA-37446-Gain Zornitza Stark Region: isca-37446-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.98 ISCA-37446-Gain Zornitza Stark Phenotypes for Region: ISCA-37446-Gain were changed from Chromosome 22q11.2 microduplication syndrome MIM#608363 to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark edited their review of Region: ISCA-37446-Gain: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark reviewed Region: ISCA-37446-Gain: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D; Mode of inheritance: None
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark Classified Region: ISCA-37446-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark Region: isca-37446-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.96 ISCA-37443-Loss Zornitza Stark Marked Region: ISCA-37443-Loss as ready
Common deletion and duplication syndromes v0.96 ISCA-37443-Loss Zornitza Stark Region: isca-37443-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.96 ISCA-37443-Loss Zornitza Stark Phenotypes for Region: ISCA-37443-Loss were changed from Chromosome 3q29 microdeletion syndrome MIM#609425 to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism
Common deletion and duplication syndromes v0.95 ISCA-37443-Loss Zornitza Stark Classified Region: ISCA-37443-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.95 ISCA-37443-Loss Zornitza Stark Region: isca-37443-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.94 ISCA-37441-Loss Zornitza Stark Marked Region: ISCA-37441-Loss as ready
Common deletion and duplication syndromes v0.94 ISCA-37441-Loss Zornitza Stark Region: isca-37441-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.94 ISCA-37441-Loss Zornitza Stark Phenotypes for Region: ISCA-37441-Loss were changed from Potocki-Shaffer syndrome MIM#601224 to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina
Common deletion and duplication syndromes v0.93 ISCA-37441-Loss Zornitza Stark Classified Region: ISCA-37441-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.93 ISCA-37441-Loss Zornitza Stark Region: isca-37441-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.92 ISCA-37436-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37436-Loss.
Common deletion and duplication syndromes v0.92 ISCA-37440-Loss Zornitza Stark Marked Region: ISCA-37440-Loss as ready
Common deletion and duplication syndromes v0.92 ISCA-37440-Loss Zornitza Stark Region: isca-37440-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.92 ISCA-37440-Loss Zornitza Stark Phenotypes for Region: ISCA-37440-Loss were changed from 2p21 deletion syndrome to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Common deletion and duplication syndromes v0.91 ISCA-37440-Loss Zornitza Stark Classified Region: ISCA-37440-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.91 ISCA-37440-Loss Zornitza Stark Region: isca-37440-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Marked Region: ISCA-37439-Gain as ready
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Region: isca-37439-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Classified Region: ISCA-37439-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Region: isca-37439-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.89 ISCA-37436-Loss Zornitza Stark Marked Region: ISCA-37436-Loss as ready
Common deletion and duplication syndromes v0.89 ISCA-37436-Loss Zornitza Stark Region: isca-37436-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.89 ISCA-37436-Loss Zornitza Stark Phenotypes for Region: ISCA-37436-Loss were changed from Hereditary neuropathy with liability to pressure palsies to Neuropathy, recurrent, with pressure palsies, MIM# 162500
Common deletion and duplication syndromes v0.88 ISCA-37436-Loss Zornitza Stark Classified Region: ISCA-37436-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.88 ISCA-37436-Loss Zornitza Stark Region: isca-37436-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.87 ISCA-37436-Loss Zornitza Stark reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, recurrent, with pressure palsies, MIM# 162500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.87 ISCA-37468-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37468-Loss.
Common deletion and duplication syndromes v0.87 ISCA-37493-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37493-Loss.
Common deletion and duplication syndromes v0.87 ISCA-37436-Gain Zornitza Stark Marked Region: ISCA-37436-Gain as ready
Common deletion and duplication syndromes v0.87 ISCA-37436-Gain Zornitza Stark Region: isca-37436-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.87 ISCA-37436-Gain Zornitza Stark Phenotypes for Region: ISCA-37436-Gain were changed from Charcot-Marie-Tooth disease type 1A to Charcot-Marie-Tooth disease type 1A, MIM#118220
Common deletion and duplication syndromes v0.86 ISCA-37436-Gain Zornitza Stark Classified Region: ISCA-37436-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.86 ISCA-37436-Gain Zornitza Stark Region: isca-37436-gain has been classified as Green List (High Evidence).
Mendeliome v0.5525 TFE3 Zornitza Stark Publications for gene: TFE3 were set to 30595499; 31833172; 33057194
Mendeliome v0.5524 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5523 TFE3 Zornitza Stark edited their review of gene: TFE3: Added comment: PMID: 32409512 (2020) - 14 variants reported as de novo events in 17 unrelated cases (including 5 previously published) of severe intellectual disability with pigmentary mosaicism and storage disorder-like features; Changed publications: 30595499, 31833172, 32409512; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.937 TFE3 Zornitza Stark Publications for gene: TFE3 were set to 30595499; 31833172
Genetic Epilepsy v0.936 TFE3 Zornitza Stark Mode of pathogenicity for gene: TFE3 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.935 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.3233 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.934 TFE3 Zornitza Stark edited their review of gene: TFE3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.934 TFE3 Zornitza Stark edited their review of gene: TFE3: Added comment: PMID: 32409512 (2020) - 14 variants reported as de novo events in 17 unrelated cases (including 5 previously published) of severe intellectual disability with pigmentary mosaicism and storage disorder-like features; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 30595499, 31833172, 32409512; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3232 TFE3 Zornitza Stark Publications for gene: TFE3 were set to 30595499; 31833172
Intellectual disability syndromic and non-syndromic v0.3231 TFE3 Zornitza Stark Mode of pathogenicity for gene: TFE3 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.3230 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Foveal Hypoplasia v0.7 SLC38A8 Zornitza Stark Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#609218 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Foveal Hypoplasia v0.6 SLC38A8 Zornitza Stark Publications for gene: SLC38A8 were set to 24045842; 24290379
Foveal Hypoplasia v0.5 SLC38A8 Zornitza Stark reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5523 SLC38A8 Zornitza Stark Marked gene: SLC38A8 as ready
Mendeliome v0.5523 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Mendeliome v0.5523 SLC38A8 Zornitza Stark Phenotypes for gene: SLC38A8 were changed from to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Mendeliome v0.5522 SLC38A8 Zornitza Stark Publications for gene: SLC38A8 were set to
Mendeliome v0.5521 SLC38A8 Zornitza Stark Mode of inheritance for gene: SLC38A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.71 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589
Review for gene: CAPN15 was set to GREEN
Added comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.
Sources: Literature
Mendeliome v0.5520 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Mendeliome v0.5520 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Mendeliome v0.5520 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Mendeliome v0.5520 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.66 TONSL Zornitza Stark Marked gene: TONSL as ready
Skeletal dysplasia v0.66 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Skeletal dysplasia v0.66 TONSL Zornitza Stark Classified gene: TONSL as Green List (high evidence)
Skeletal dysplasia v0.66 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Skeletal dysplasia v0.65 TONSL Zornitza Stark gene: TONSL was added
gene: TONSL was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 30773277; 30773278; 32959051
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068
Review for gene: TONSL was set to GREEN
Added comment: Associated with Spondyloepimetaphyseal dysplasia, sponastrime type MIM#271510 (AR) in OMIM.

PMID: 30773277 - Burrage et al 2019 - identified, using WES or Sanger sequencing, compound heterozygous variants in TONSL in 9 individuals (8 families) with SPONASTRIME dysplasia. 4 other probands with SPONASTRIME dysplasia did not have biallelic variants in TONSL or in MMS22L, but two of them did have a single heterozygous variants in TONSL. The authors say they cannot exclude deep intronic, promotor variants or large intragenic rearrangements/deletions in these patients. An additional 4 individuals (3 families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities were also found to have compound heterozygous variants in TONSL.

PMID: 30773278 - Chang et al 2019 - Using WES they identified homozygous or compound heterozygous TONSL variants in 10 of 13 individuals (9 families) with SPONASTRIME dysplasia.

PMID: 32959051 - Micale et al 2020 - report a 9-year-old Italian girl with typical SPONASTRIME dysplasia who was found to have two novel missense variants in TONSL. Each parent was heterozygous for one of the variants. Both variants were found to be very rare in the gnomad database. Patient-derived fibroblasts show increased levels of spontaneous chromosomal breaks, reduced cell proliferation and enhanced apoptosis.
Sources: Literature
Mendeliome v0.5519 TONSL Zornitza Stark Marked gene: TONSL as ready
Mendeliome v0.5519 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Mendeliome v0.5519 TONSL Zornitza Stark Phenotypes for gene: TONSL were changed from to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068
Mendeliome v0.5518 TONSL Zornitza Stark Publications for gene: TONSL were set to
Mendeliome v0.5517 TONSL Zornitza Stark Mode of inheritance for gene: TONSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5516 FKBP8 Zornitza Stark Marked gene: FKBP8 as ready
Mendeliome v0.5516 FKBP8 Zornitza Stark Gene: fkbp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5516 FKBP8 Zornitza Stark Classified gene: FKBP8 as Amber List (moderate evidence)
Mendeliome v0.5516 FKBP8 Zornitza Stark Gene: fkbp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5515 NPPA Zornitza Stark Classified gene: NPPA as Amber List (moderate evidence)
Mendeliome v0.5515 NPPA Zornitza Stark Gene: nppa has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5514 NPPA Zornitza Stark Marked gene: NPPA as ready
Mendeliome v0.5514 NPPA Zornitza Stark Gene: nppa has been classified as Green List (High Evidence).
Mendeliome v0.5514 NPPA Zornitza Stark Phenotypes for gene: NPPA were changed from to Atrial fibrillation, familial, 6, (MIM#612201)
Mendeliome v0.5513 NPPA Zornitza Stark Publications for gene: NPPA were set to
Mendeliome v0.5512 NPPA Zornitza Stark Mode of inheritance for gene: NPPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atrial Fibrillation v0.6 NPPA Zornitza Stark Marked gene: NPPA as ready
Atrial Fibrillation v0.6 NPPA Zornitza Stark Added comment: Comment when marking as ready: Two families and functional data, including animal models but note AF is relatively common and generally multifactorial so more evidence would be desirable for Green rating.
Atrial Fibrillation v0.6 NPPA Zornitza Stark Gene: nppa has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5511 NPPA Zornitza Stark reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18614783, 20064500, 31034774, 31077706; Phenotypes: Atrial fibrillation, familial, 6, (MIM#612201); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atrial Fibrillation v0.6 NPPA Zornitza Stark Marked gene: NPPA as ready
Atrial Fibrillation v0.6 NPPA Zornitza Stark Gene: nppa has been classified as Amber List (Moderate Evidence).
Atrial Fibrillation v0.6 NPPA Zornitza Stark Phenotypes for gene: NPPA were changed from to Atrial fibrillation, familial, 6, (MIM#612201)
Atrial Fibrillation v0.5 NPPA Zornitza Stark Publications for gene: NPPA were set to
Atrial Fibrillation v0.4 NPPA Zornitza Stark Mode of inheritance for gene: NPPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atrial Fibrillation v0.3 NPPA Zornitza Stark Classified gene: NPPA as Amber List (moderate evidence)
Atrial Fibrillation v0.3 NPPA Zornitza Stark Gene: nppa has been classified as Amber List (Moderate Evidence).
Autism v0.123 USP7 Zornitza Stark changed review comment from: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.; to: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.
Mendeliome v0.5511 FOXA2 Zornitza Stark Marked gene: FOXA2 as ready
Mendeliome v0.5511 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Mendeliome v0.5511 FOXA2 Zornitza Stark Classified gene: FOXA2 as Green List (high evidence)
Mendeliome v0.5511 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Mendeliome v0.5510 FOXA2 Zornitza Stark gene: FOXA2 was added
gene: FOXA2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXA2 were set to 29329447; 28973288; 11445544
Phenotypes for gene: FOXA2 were set to Hyperinsulinaemia
Review for gene: FOXA2 was set to GREEN
Added comment: At least two families reported and functional data.
Sources: Expert Review
Autism v0.123 USP7 Zornitza Stark Marked gene: USP7 as ready
Autism v0.123 USP7 Zornitza Stark Gene: usp7 has been classified as Green List (High Evidence).
Autism v0.123 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from to Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism
Autism v0.122 USP7 Zornitza Stark Publications for gene: USP7 were set to
Autism v0.121 USP7 Zornitza Stark Mode of inheritance for gene: USP7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.120 USP7 Zornitza Stark reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26365382, 30679821; Phenotypes: Hao-Fountain syndrome, MIM# 616863, Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5509 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from Intellectual disability; Autism to Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism
Mendeliome v0.5508 USP7 Zornitza Stark Publications for gene: USP7 were set to 30679821
Mendeliome v0.5507 USP7 Zornitza Stark edited their review of gene: USP7: Added comment: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.; Changed publications: 26365382, 30679821; Changed phenotypes: Hao-Fountain syndrome, MIM# 616863, Intellectual disability, Autism
Intellectual disability syndromic and non-syndromic v0.3229 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from ID; Autism to Hao-Fountain syndrome, MIM# 616863; ID; Autism
Intellectual disability syndromic and non-syndromic v0.3228 USP7 Zornitza Stark Publications for gene: USP7 were set to 30679821
Intellectual disability syndromic and non-syndromic v0.3227 USP7 Zornitza Stark edited their review of gene: USP7: Changed publications: 26365382, 30679821
Intellectual disability syndromic and non-syndromic v0.3227 USP7 Zornitza Stark reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hao-Fountain syndrome, MIM# 616863; Mode of inheritance: None
Mendeliome v0.5507 FKBP8 Eleanor Williams gene: FKBP8 was added
gene: FKBP8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FKBP8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FKBP8 were set to 32969478
Phenotypes for gene: FKBP8 were set to spina bifida HP:0002414
Review for gene: FKBP8 was set to AMBER
Added comment: Not associated with a phenotype in OMIM.

PMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects.

Sufficient cases to rate green, but only the FKBP8 gene looked at so perhaps some caution required while further evidence is gathered.
Sources: Literature
Mendeliome v0.5507 TONSL Eleanor Williams reviewed gene: TONSL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30773277, 30773278, 32959051; Phenotypes: Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510, spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5507 CAPN15 Eleanor Williams changed review comment from: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families).
Sources: Literature; to: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.

Sources: Literature
Mendeliome v0.5507 CAPN15 Eleanor Williams gene: CAPN15 was added
gene: CAPN15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589
Review for gene: CAPN15 was set to GREEN
Added comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families).
Sources: Literature
Mendeliome v0.5507 SLC38A8 Eleanor Williams reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3227 TFE3 Arina Puzriakova reviewed gene: TFE3: 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: 32409512; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism; 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 v0.5507 MYF5 Zornitza Stark Marked gene: MYF5 as ready
Mendeliome v0.5507 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Mendeliome v0.5507 MYF5 Zornitza Stark Phenotypes for gene: MYF5 were changed from to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855
Mendeliome v0.5506 MYF5 Zornitza Stark Publications for gene: MYF5 were set to
Mendeliome v0.5505 MYF5 Zornitza Stark Mode of inheritance for gene: MYF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5504 MYF5 Zornitza Stark reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29887215, 15386014, 1423602, 9268580, 8918877; Phenotypes: Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.72 MYF5 Zornitza Stark Publications for gene: MYF5 were set to PMID: 29887215
Congenital ophthalmoplegia v0.71 MYF5 Zornitza Stark Marked gene: MYF5 as ready
Congenital ophthalmoplegia v0.71 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.71 MYF5 Zornitza Stark Classified gene: MYF5 as Green List (high evidence)
Congenital ophthalmoplegia v0.71 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.70 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Congenital ophthalmoplegia v0.70 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.70 DGUOK Zornitza Stark Classified gene: DGUOK as Green List (high evidence)
Congenital ophthalmoplegia v0.70 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.69 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Congenital ophthalmoplegia v0.69 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.69 RRM2B Zornitza Stark Classified gene: RRM2B as Green List (high evidence)
Congenital ophthalmoplegia v0.69 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.68 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Congenital ophthalmoplegia v0.68 POLG2 Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.68 POLG2 Zornitza Stark Publications for gene: POLG2 were set to PMID: 21555342; 16685652
Congenital ophthalmoplegia v0.67 POLG2 Zornitza Stark Classified gene: POLG2 as Green List (high evidence)
Congenital ophthalmoplegia v0.67 POLG2 Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Marked Region: ISCA-37421-Loss as ready
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Region: isca-37421-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Classified Region: ISCA-37421-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Region: isca-37421-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.84 ISCA-37421-Loss Zornitza Stark Region: ISCA-37421-Loss was added
Region: ISCA-37421-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37421-Loss.
Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37421-Loss were set to 32655619
Phenotypes for Region: ISCA-37421-Loss were set to Chromosome 1q21.1 deletion syndrome, MIM# 612474; intellectual disability; microcephaly; congenital anomalies
Review for Region: ISCA-37421-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Marked Region: ISCA-37421-Gain as ready
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Region: isca-37421-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Classified Region: ISCA-37421-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Region: isca-37421-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.82 ISCA-37421-Gain Zornitza Stark Region: ISCA-37421-Gain was added
Region: ISCA-37421-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37421-Gain.
Mode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37421-Gain were set to 32655619
Phenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome, MIM# 612475; intellectual disability; autism; macrocephaly
Review for Region: ISCA-37421-Gain was set to GREEN
Added comment: Well established CNV
Sources: Expert list
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Marked Region: ISCA-37420-Loss as ready
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Region: isca-37420-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Classified Region: ISCA-37420-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Region: isca-37420-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.80 ISCA-37420-Loss Zornitza Stark Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37420-Loss.
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37420-Loss were set to Koolen-De Vries syndrome, MIM# 610443; intellectual disability; hypotonia; dysmorphic features
Review for Region: ISCA-37420-Loss was set to GREEN
Added comment: Well established CNV, features of KDVS due to KANSL1 deletion.
Sources: Expert list
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Marked Region: ISCA_37418-Loss as ready
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Region: isca_37418-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Classified Region: ISCA_37418-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Region: isca_37418-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.78 ISCA_37418-Loss Zornitza Stark Region: ISCA_37418-Loss was added
Region: ISCA_37418-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA_37418-Loss.
Mode of inheritance for Region: ISCA_37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA_37418-Loss were set to Smith-Magenis syndrome, MIM# 182290; intellectual disability; dysmorphic features; behavioural issues
Review for Region: ISCA_37418-Loss was set to GREEN
Added comment: Well established CNV, features of SMS due to RAI1 deletion.
Sources: Expert list
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Marked Region: ISCA-37418-Gain as ready
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Region: isca-37418-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Classified Region: ISCA-37418-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Region: isca-37418-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.76 ISCA-37418-Gain Zornitza Stark Region: ISCA-37418-Gain was added
Region: ISCA-37418-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies
Review for Region: ISCA-37418-Gain was set to GREEN
Added comment: Well established CNV. Reciprocal duplication of the 17p11.2 deletion causing Smith-Magenis syndrome.
Sources: Expert list
Mitochondrial disease v0.559 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336
Mendeliome v0.5504 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336
Mendeliome v0.5503 TARS2 Zornitza Stark edited their review of gene: TARS2: Added comment: Second family reported, single affected individual, compound heterozygous missense variants, computational data only in support of pathogenicity.; Changed publications: 24827421, 26811336, 33153448
Mitochondrial disease v0.558 TARS2 Zornitza Stark edited their review of gene: TARS2: Added comment: Second family reported, single affected individual, compound het missense variants, computational data only in support of pathogenicity.; Changed publications: 24827421, 26811336, 33153448
Diabetes Insipidus v0.6 AVP Bryony Thompson Marked gene: AVP as ready
Diabetes Insipidus v0.6 AVP Bryony Thompson Gene: avp has been classified as Green List (High Evidence).
Diabetes Insipidus v0.6 AVP Bryony Thompson Classified gene: AVP as Green List (high evidence)
Diabetes Insipidus v0.6 AVP Bryony Thompson Gene: avp has been classified as Green List (High Evidence).
Diabetes Insipidus v0.5 AVP Bryony Thompson gene: AVP was added
gene: AVP was added to Diabetes Insipidus. Sources: Expert list
Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AVP were set to 6526016; 1840604; 8554046
Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700
Review for gene: AVP was set to GREEN
gene: AVP was marked as current diagnostic
Added comment: Well-established cause of neurohypophyseal diabetes insipidus, and supporting rat model.
Sources: Expert list
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Marked gene: AQP2 as ready
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Gene: aqp2 has been classified as Green List (High Evidence).
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Classified gene: AQP2 as Green List (high evidence)
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Gene: aqp2 has been classified as Green List (High Evidence).
Diabetes Insipidus v0.3 AQP2 Bryony Thompson gene: AQP2 was added
gene: AQP2 was added to Diabetes Insipidus. Sources: Expert list
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AQP2 were set to 7524315; 20301356; 27156763; 9649557
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800
Review for gene: AQP2 was set to GREEN
gene: AQP2 was marked as current diagnostic
Added comment: Well-established cause of nephrogenic diabetes insipidus. Loss of function is the mechanism of disease for the recessive form, while the dominantly inherited form is caused by pathogenic variants with a dominant negative effect.
Sources: Expert list
Diabetes Insipidus v0.2 AVPR2 Bryony Thompson Classified gene: AVPR2 as Green List (high evidence)
Diabetes Insipidus v0.2 AVPR2 Bryony Thompson Gene: avpr2 has been classified as Green List (High Evidence).
Diabetes Insipidus v0.1 AVPR2 Bryony Thompson gene: AVPR2 was added
gene: AVPR2 was added to Diabetes Insipidus. Sources: Expert list
SV/CNV tags were added to gene: AVPR2.
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AVPR2 were set to 1356229; 20301356; 27156763
Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic MIM#304800
Review for gene: AVPR2 was set to GREEN
gene: AVPR2 was marked as current diagnostic
Added comment: Well-established cause of nephrogenic diabetes insipidus (most common cause). ~10% of disease-causing variants are large deletions. females are unlikely to be affected, but heterozygous females can exhibit variable degrees of polyuria and polydipsia because of skewed X chromosome inactivation
Sources: Expert list
Congenital ophthalmoplegia v0.66 POLG2 Shannon LeBlanc gene: POLG2 was added
gene: POLG2 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLG2 were set to PMID: 21555342; 16685652
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type) - 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 - 610131
Review for gene: POLG2 was set to GREEN
Added comment: PEOA4 - age of onset range from infancy to adulthood.
Sources: Literature
Diabetes Insipidus v0.0 Bryony Thompson Added Panel Diabetes Insipidus
Set panel types to: Royal Melbourne Hospital; Rare Disease
Congenital ophthalmoplegia v0.66 RRM2B Shannon LeBlanc gene: RRM2B was added
gene: RRM2B was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to PMID: 17486094; 19138848; 24741716; 31462754
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) - 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) - 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 - 613077
Review for gene: RRM2B was set to GREEN
Added comment: Neonatal onset. Ophthalmoplegia and ptosis are common features.
Sources: Literature
Congenital ophthalmoplegia v0.66 DGUOK Shannon LeBlanc gene: DGUOK was added
gene: DGUOK was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to PMID: 11687800; 12205643; 15887277
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM 617070; portal hypertension, non cirrhotic OMIM 617068
Review for gene: DGUOK was set to GREEN
Added comment: Mitochondrial DNA depletion syndrome-3: onset in infancy, progressive external ophthalmoplegia is a feature.
Sources: Literature
Congenital ophthalmoplegia v0.66 MYF5 Shannon LeBlanc gene: MYF5 was added
gene: MYF5 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to PMID: 29887215
Phenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855
Review for gene: MYF5 was set to GREEN
Added comment: congenital non-progressive external ophthalmoplegia and ptosis. Other features include hypoplastic or missing ribs with fusion anomalies. Torticollis and scoliosis develops during childhood.

PMID 29887215: three unrelated consanguineous families with homozygous LOF mutations: Two Turkish families with a homozygous 10bp deletion (frameshift), predicted to undergo NMD. Two sisters from a Yemeni family with a homozygous missense variant in exon 1 - in vitro assays showed LOF for the missense variant.

The clinical phenotype overlaps strikingly with several MYF5 knockout mouse models. (PMID: 15386014, 1423602, 9268580, 8918877).
Sources: Literature
Common deletion and duplication syndromes v0.75 ISCA-37441-Loss Elena Savva Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to PMID: 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224
Review for Region: ISCA-37441-Loss was set to GREEN
Added comment: Established CNV

Craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37440-Loss Elena Savva Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome
Review for Region: ISCA-37440-Loss was set to GREEN
Added comment: Established CNV

Includes the deletion of SLC3A1, PREPL, C2orf34 and PPM1B

Hypotonia-cystinuria syndrome is the deletion of only SLC3A1 and PREPL
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37439-Gain Elena Savva Region: ISCA-37439-Gain was added
Region: ISCA-37439-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37439-Gain 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 Region: ISCA-37439-Gain were set to PMID: 20004760
Phenotypes for Region: ISCA-37439-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815
Review for Region: ISCA-37439-Gain was set to GREEN
Added comment: Established CNV

3 mothers, who were more mildly affected with learning difficulties, also carried the duplication with non-random X inactivation.

Causes mental retardation, both syndromic and non syndromic
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37436-Loss Elena Savva Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Loss were set to PMID: 32356557; 31118906; 24726093
Phenotypes for Region: ISCA-37436-Loss were set to Hereditary neuropathy with liability to pressure palsies
Review for Region: ISCA-37436-Loss was set to GREEN
Added comment: Established CNV

Deletion of PMP22 the main cause of disease, which may include psychiatric conditions

Thickening of the myelin sheath, called “tomacula”, is considered the hallmark of the disease
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37436-Gain Elena Savva Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Gain were set to PMID: 32648354
Phenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A
Review for Region: ISCA-37436-Gain was set to GREEN
Added comment: It is suspected that de novo CMT1A cases tend to exhibit relatively mild symptoms compared to non‐de novo cases
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37486-Loss Zornitza Stark Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Common deletion and duplication syndromes v0.74 ISCA-37486-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37486-Loss.
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37446-Loss.
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Marked Region: ISCA-37446-Loss as ready
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Phenotypes for Region: ISCA-37446-Loss were changed from Chromosome 22q11.2 deletion syndrome, distal MIM#611867 to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Common deletion and duplication syndromes v0.73 ISCA-37446-Loss Zornitza Stark Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049
Common deletion and duplication syndromes v0.72 ISCA-37446-Loss Zornitza Stark Classified Region: ISCA-37446-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.72 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.71 ISCA-37446-Loss Zornitza Stark reviewed Region: ISCA-37446-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671380; Phenotypes: Chromosome 22q11.2 deletion syndrome, distal MIM#611867, intellectual disability, autism, multiple congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.71 ISCA-37446-Gain Elena Savva Region: ISCA-37446-Gain was added
Region: ISCA-37446-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37446-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37446-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363
Review for Region: ISCA-37446-Gain was set to GREEN
Added comment: Established CNV

Extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects.

Both de novo and familial reports
Sources: Expert list
Common deletion and duplication syndromes v0.71 ISCA-37443-Loss Elena Savva Region: ISCA-37443-Loss was added
Region: ISCA-37443-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37443-Loss were set to PMID: 20830797; 19460468; 19610115
Phenotypes for Region: ISCA-37443-Loss were set to Chromosome 3q29 microdeletion syndrome MIM#609425
Review for Region: ISCA-37443-Loss was set to GREEN
Added comment: Established CNV

Patients have intellectual disabilities, a history of autism and psychiatric symptoms.

The region of overlap encompasses 20 RefSeq genes, including FBX045, DLG1, and PAK2.

Both familial and de novo reports
Sources: Expert list
Common deletion and duplication syndromes v0.71 ISCA-37486-Loss Zornitza Stark Marked Region: ISCA-37486-Loss as ready
Common deletion and duplication syndromes v0.71 ISCA-37486-Loss Zornitza Stark Region: isca-37486-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.71 ISCA-37486-Loss Zornitza Stark Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913 to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Common deletion and duplication syndromes v0.70 ISCA-37486-Loss Zornitza Stark Publications for Region: ISCA-37486-Loss were set to PMID: 19914906
Common deletion and duplication syndromes v0.69 ISCA-37486-Loss Zornitza Stark Classified Region: ISCA-37486-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.69 ISCA-37486-Loss Zornitza Stark Region: isca-37486-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.68 ISCA-37486-Loss Zornitza Stark reviewed Region: ISCA-37486-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 32993859, 32732550, 32597026, 32537635; Phenotypes: Chromosome 16p11.2 deletion syndrome MIM#611913, distal BP2-BP3, intellectual disability, autism, obesity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.68 ISCA-37446-Loss Elena Savva Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867
Review for Region: ISCA-37446-Loss was set to GREEN
Added comment: Established CNV

Usually de novo
All patients presented with characteristic facial dysmorphic features. A history of prematurity, prenatal and postnatal growth delay, developmental delay, and mild skeletal abnormalities was prevalent among the patients. Two patients were found to have a cardiovascular malformation, one had truncus arteriosus, and another had a bicuspid aortic valve.
Sources: Expert list
Common deletion and duplication syndromes v0.68 ISCA-37493-Loss Zornitza Stark Marked Region: ISCA-37493-Loss as ready
Common deletion and duplication syndromes v0.68 ISCA-37493-Loss Zornitza Stark Region: isca-37493-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.68 ISCA-37493-Loss Zornitza Stark Phenotypes for Region: ISCA-37493-Loss were changed from 1q43q44 microdeletion syndrome to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Common deletion and duplication syndromes v0.67 ISCA-37493-Loss Zornitza Stark Publications for Region: ISCA-37493-Loss were set to PMID: 28283832
Common deletion and duplication syndromes v0.66 ISCA-37493-Loss Zornitza Stark Classified Region: ISCA-37493-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.66 ISCA-37493-Loss Zornitza Stark Region: isca-37493-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.65 ISCA-37493-Loss Zornitza Stark reviewed Region: ISCA-37493-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31929334, 31830750, 30853971; Phenotypes: 1q43q44 microdeletion syndrome, intellectual disability, seizures, microcephaly, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.65 ISCA-37494-Gain Zornitza Stark Marked Region: ISCA-37494-Gain as ready
Common deletion and duplication syndromes v0.65 ISCA-37494-Gain Zornitza Stark Region: isca-37494-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.65 ISCA-37494-Gain Zornitza Stark Phenotypes for Region: ISCA-37494-Gain were changed from Chromosome Xq28 duplication syndrome MIM#300815 to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections
Common deletion and duplication syndromes v0.64 ISCA-37494-Gain Zornitza Stark Publications for Region: ISCA-37494-Gain were set to PMID: 25927380
Common deletion and duplication syndromes v0.63 ISCA-37494-Gain Zornitza Stark Classified Region: ISCA-37494-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.63 ISCA-37494-Gain Zornitza Stark Region: isca-37494-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.62 ISCA-37494-Gain Zornitza Stark reviewed Region: ISCA-37494-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301461, 32043567, 32112660; Phenotypes: Chromosome Xq28 duplication syndrome MIM#300815, intellectual disability, hypotonia, seizures, spasticity, recurrent respiratory infections; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Common deletion and duplication syndromes v0.62 ISCA-37500-Loss Zornitza Stark Marked Region: ISCA-37500-Loss as ready
Common deletion and duplication syndromes v0.62 ISCA-37500-Loss Zornitza Stark Region: isca-37500-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.62 ISCA-37500-Loss Zornitza Stark Phenotypes for Region: ISCA-37500-Loss were changed from Chromosome 15q25 deletion syndrome MIM#614294 to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Common deletion and duplication syndromes v0.61 ISCA-37500-Loss Zornitza Stark Publications for Region: ISCA-37500-Loss were set to PMID: 20921022
Common deletion and duplication syndromes v0.60 ISCA-37500-Loss Zornitza Stark Classified Region: ISCA-37500-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.60 ISCA-37500-Loss Zornitza Stark Region: isca-37500-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.59 ISCA-37500-Loss Zornitza Stark reviewed Region: ISCA-37500-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 24352913; Phenotypes: Chromosome 15q25 deletion syndrome MIM#614294, intellectual disability, congenital abnormalities, haematological abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.59 ISCA-37501-Loss Zornitza Stark Marked Region: ISCA-37501-Loss as ready
Common deletion and duplication syndromes v0.59 ISCA-37501-Loss Zornitza Stark Region: isca-37501-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.59 ISCA-37501-Loss Zornitza Stark Phenotypes for Region: ISCA-37501-Loss were changed from Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355 to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355; intellectual disability; microcephaly; congenital anomalies; pulmonary hypertension
Common deletion and duplication syndromes v0.58 ISCA-37501-Loss Zornitza Stark Publications for Region: ISCA-37501-Loss were set to PMID: 20206336
Common deletion and duplication syndromes v0.57 ISCA-37501-Loss Zornitza Stark Classified Region: ISCA-37501-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.57 ISCA-37501-Loss Zornitza Stark Region: isca-37501-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.56 ISCA-37501-Loss Zornitza Stark reviewed Region: ISCA-37501-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31151956, 30639323; Phenotypes: Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355, intellectual disability, microcephaly, congenital anomalies, pulmonary hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.56 ISCA-46290-Gain Zornitza Stark Marked Region: ISCA-46290-Gain as ready
Common deletion and duplication syndromes v0.56 ISCA-46290-Gain Zornitza Stark Region: isca-46290-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.56 ISCA-46290-Gain Zornitza Stark Phenotypes for Region: ISCA-46290-Gain were changed from Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures
Common deletion and duplication syndromes v0.55 ISCA-46290-Gain Zornitza Stark Publications for Region: ISCA-46290-Gain were set to PMID: 19716111
Common deletion and duplication syndromes v0.54 ISCA-46290-Gain Zornitza Stark Classified Region: ISCA-46290-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.54 ISCA-46290-Gain Zornitza Stark Region: isca-46290-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.53 ISCA-46290-Gain Zornitza Stark reviewed Region: ISCA-46290-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 27605428, 29707408, 16900295; Phenotypes: Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801, intellectual disability, seizures; Mode of inheritance: None
Common deletion and duplication syndromes v0.53 ISCA-46295-Loss Zornitza Stark Marked Region: ISCA-46295-Loss as ready
Common deletion and duplication syndromes v0.53 ISCA-46295-Loss Zornitza Stark Region: isca-46295-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.53 ISCA-46295-Loss Zornitza Stark Phenotypes for Region: ISCA-46295-Loss were changed from Chromosome 15q13.3 microdeletion syndrome MIM#612001 to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures
Common deletion and duplication syndromes v0.52 ISCA-46295-Loss Zornitza Stark Mode of inheritance for Region: ISCA-46295-Loss was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common deletion and duplication syndromes v0.51 ISCA-46295-Loss Zornitza Stark Classified Region: ISCA-46295-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.51 ISCA-46295-Loss Zornitza Stark Region: isca-46295-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.50 ISCA-46295-Loss Zornitza Stark reviewed Region: ISCA-46295-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 15q13.3 microdeletion syndrome MIM#612001, intellectual disability, seizures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Marked Region: ISCA-37478-Loss as ready
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Region: isca-37478-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Classified Region: ISCA-37478-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Region: isca-37478-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.49 ISCA-37478-Loss Zornitza Stark Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Review for Region: ISCA-37478-Loss was set to GREEN
Added comment: Well established CNV. Deletion classes The deletion classes are subdivided into Type 1 and Type 2 based on their proximal breakpoints (BP1-BP3 and BP2-BP3, respectively).
Sources: Expert list
Common deletion and duplication syndromes v0.48 Zornitza Stark removed region:ISCA-37478-Loss from the panel
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark commented on Region: ISCA-37468-Loss: Contiguous gene deletion syndrome, RP2 responsible for retinal dystrophy. ID not observed in individuals with deletions involving RP2 and ZNF630, arguing against involvement of ZNF630 in the ID component observed with larger deletions.
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark Marked Region: ISCA-37468-Loss as ready
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark Region: isca-37468-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578 to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy
Common deletion and duplication syndromes v0.46 ISCA-37468-Loss Zornitza Stark Classified Region: ISCA-37468-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.46 ISCA-37468-Loss Zornitza Stark Region: isca-37468-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.45 ISCA-37468-Loss Zornitza Stark reviewed Region: ISCA-37468-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome Xp11.3 deletion syndrome MIM#300578, intellectual disability, retinal dystrophy; Mode of inheritance: None
Common deletion and duplication syndromes v0.45 ISCA-37468-Loss Elena Savva Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37468-Loss 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 Region: ISCA-37468-Loss were set to PMID: 22126752; 16385466; 20186789
Phenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578
Review for Region: ISCA-37468-Loss was set to GREEN
Added comment: Established CNV

One-third of XL retinal dystrophies are accounted for by RP2 mutations at the Xp11.23 locus.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37500-Loss Elena Savva commented on Region: ISCA-37500-Loss: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects.

Contains an imprinted region
Common deletion and duplication syndromes v0.45 ISCA-37486-Loss Elena Savva Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37486-Loss were set to PMID: 19914906
Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913
Review for Region: ISCA-37486-Loss was set to GREEN
Added comment: Established CNV

The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autism ( approximately 20%)

One subject with the deletion was asymptomatic
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37493-Loss Elena Savva Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to PMID: 28283832
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome
Review for Region: ISCA-37493-Loss was set to GREEN
Added comment: Established CNV

AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37494-Gain Elena Savva Region: ISCA-37494-Gain was added
Region: ISCA-37494-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37494-Gain 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 Region: ISCA-37494-Gain were set to PMID: 25927380
Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815
Review for Region: ISCA-37494-Gain was set to GREEN
Added comment: Established CNV

This syndrome has recently been described in 9 males with cognitive impairment, behavioral problems, and distinctive facial features; and 6 females with milder phenotypes.

Prenatally diagnosed de novo int22h1/int22h2-mediated deletion in a healthy female infant.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37500-Loss Elena Savva Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to PMID: 20921022
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294
Review for Region: ISCA-37500-Loss was set to GREEN
Added comment: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37501-Loss Elena Savva Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37501-Loss were set to PMID: 20206336
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: These individuals have common features, including mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, and hand, foot, and limb abnormalities.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-46290-Gain Elena Savva Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to PMID: 19716111
Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801
Review for Region: ISCA-46290-Gain was set to GREEN
Added comment: Males and females affected - Most affected females show preferential activation of the duplicated X chromosome.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-46295-Loss Elena Savva Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46295-Loss were set to PMID: 19289393
Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001
Review for Region: ISCA-46295-Loss was set to GREEN
Added comment: Well established CNV

PMID: 19289393: incomplete penetrance well reported for autism, mental retardation, and psychiatric disorders

Specific genes implicated in the phenotype include CHRNA7 (118511) and OTUD7A (612024)
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Marked Region: ISCA-37415-Loss as ready
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Region: isca-37415-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Classified Region: ISCA-37415-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Region: isca-37415-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.44 ISCA-37415-Loss Zornitza Stark Region: ISCA-37415-Loss was added
Region: ISCA-37415-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37415-Loss.
Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37415-Loss were set to 24105370; 23637818; 22523559
Phenotypes for Region: ISCA-37415-Loss were set to 16p13.11 microdeletion syndrome; intellectual disability; autism; epilepsy
Review for Region: ISCA-37415-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Marked Region: ISCA-37415-Gain as ready
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Region: isca-37415-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Classified Region: ISCA-37415-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Region: isca-37415-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.42 ISCA-37415-Gain Zornitza Stark Region: ISCA-37415-Gain was added
Region: ISCA-37415-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37415-Gain.
Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37415-Gain were set to 30287593
Phenotypes for Region: ISCA-37415-Gain were set to 16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy
Review for Region: ISCA-37415-Gain was set to GREEN
Added comment: 16p13.11 are associated with DD/ID/autism. Duplication contains MYH11, and there is also evidence of association with aortopathy.
Sources: Expert list
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Marked Region: ISCA-37411-Loss as ready
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Classified Region: ISCA-37411-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.40 ISCA-37411-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37411-Loss.
Common deletion and duplication syndromes v0.40 ISCA-37411-Loss Zornitza Stark Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-37411-Loss were set to 19372089; 20979196
Phenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM# 612001; intellectual disability; epilepsy
Review for Region: ISCA-37411-Loss was set to GREEN
Added comment: Well established CNV, variable penetrance and expressivity. Individuals with homozygous deletions have neurodevelopmental problems, hypotonia, epileptic encephalopathy.
Sources: Expert list
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Marked Region: ISCA-37408-Loss as ready
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Region: isca-37408-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Classified Region: ISCA-37408-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Region: isca-37408-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.38 ISCA-37408-Loss Zornitza Stark Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37408-Loss.
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37408-Loss were set to 25938782; 16963482
Phenotypes for Region: ISCA-37408-Loss were set to Chromosome 2p16.1-p15 deletion syndrome 612513; intellectual disability; autism; microcephaly; dysmorphic features
Review for Region: ISCA-37408-Loss was set to GREEN
Added comment: Well established recurrent CNV, deletions are characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene also have persistence of fetal hemoglobin (HbF), which is asymptomatic.
Sources: Expert list
Incidentalome_PREGEN_DRAFT v0.3 Zornitza Stark Panel types changed to New South Wales Health Pathology
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Marked Region: ISCA-37406-Loss as ready
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Region: isca-37406-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37406-Loss.
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Classified Region: ISCA-37406-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Region: isca-37406-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.36 ISCA-37406-Loss Zornitza Stark Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
Review for Region: ISCA-37406-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Classified Region: ISCA-37405-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.34 ISCA-37405-Loss Zornitza Stark Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Review for Region: ISCA-37405-Loss was set to GREEN
Added comment: NPHP1 deletions are frequent, and can either be homozygous or compound heterozygous with SNVs, and result in a range of ciliopathies.
Sources: Expert list
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark changed review comment from: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted.
Sources: Expert list; to: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal allele is deleted.
Sources: Expert list
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark edited their review of Region: ISCA-37404-Loss: Changed phenotypes: Angelman syndrome, MIM# 105830, Prader-Willi syndrome, MIM# 176270
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Marked Region: ISCA-37404-Loss as ready
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37404-Loss.
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Phenotypes for Region: ISCA-37404-Loss were changed from Angelman syndrome, MIM# 105830 to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Common deletion and duplication syndromes v0.32 ISCA-37404-Loss Zornitza Stark Classified Region: ISCA-37404-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.32 ISCA-37404-Loss Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.31 ISCA-37404-Loss Zornitza Stark Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 20301323; 20301505
Phenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM# 105830
Review for Region: ISCA-37404-Loss was set to GREEN
Added comment: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted.
Sources: Expert list
Incidentalome_PREGEN_DRAFT v0.2 Seb Lunke Panel name changed from Incidentalome_NSW to Incidentalome_PREGEN_DRAFT
Panel status changed from internal to public
Panel types changed to
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Marked Region: ISCA-37404-Gain as ready
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Region: isca-37404-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Classified Region: ISCA-37404-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Region: isca-37404-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.29 ISCA-37404-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37404-Gain.
Common deletion and duplication syndromes v0.29 ISCA-37404-Gain Zornitza Stark Region: ISCA-37404-Gain was added
Region: ISCA-37404-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37404-Gain were set to 24239951; 24075935
Phenotypes for Region: ISCA-37404-Gain were set to Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4} 608636; intellectual disability; seizures; ataxia
Review for Region: ISCA-37404-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Skeletal Muscle Channelopathies v0.16 KCNJ18 Bryony Thompson gene: KCNJ18 was added
gene: KCNJ18 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ18 were set to 25882930; 27178871; 20074522; 27008341
Phenotypes for gene: KCNJ18 were set to Hypokalemic periodic paralysis; {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239
Review for gene: KCNJ18 was set to RED
Added comment: Single case reported with hypokalemic periodic paralysis without hyperthyroidism with G169R. Unsure, if this variant is specific to KCNJ18 due to high homology with KCNJ12 in this region.
Sources: Expert list
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-46299-Gain.
Common deletion and duplication syndromes v0.28 ISCA-37401-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37401-Loss.
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Marked Region: ISCA-46299-Gain as ready
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Classified Region: ISCA-46299-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.27 ISCA-46299-Gain Elena Savva Region: ISCA-46299-Gain was added
Region: ISCA-46299-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-46299-Gain 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 Region: ISCA-46299-Gain were set to PMID: 22840365
Phenotypes for Region: ISCA-46299-Gain were set to Xp11.22 microduplication syndrome MIM#300705
Review for Region: ISCA-46299-Gain was set to GREEN
Added comment: Well known CNV
Sources: Expert list
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Marked Region: ISCA-37401-Loss as ready
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Region: isca-37401-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Classified Region: ISCA-37401-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Region: isca-37401-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.26 ISCA-37401-Loss Zornitza Stark Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, MIM# 194072
Review for Region: ISCA-37401-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Skeletal Muscle Channelopathies v0.15 KCNE3 Bryony Thompson Marked gene: KCNE3 as ready
Skeletal Muscle Channelopathies v0.15 KCNE3 Bryony Thompson Gene: kcne3 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.15 KCNE3 Bryony Thompson gene: KCNE3 was added
gene: KCNE3 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNE3 were set to 14504341; 11207363; 16449802; 15037716; 20051516; 28356343
Phenotypes for gene: KCNE3 were set to Periodic paralysis
Review for gene: KCNE3 was set to RED
Added comment: The originally reported missense (R38H) that segregated with periodic paralysis in 2 families, is too common in gnomAD v2.1 for a variant associated with dominant disease (AF 0.003, 7 homozygotes). Kcne3(-/-) mice do not display periodic paralysis or other obvious skeletal muscle abnormalities.
Sources: Expert list
Mitochondrial disease v0.558 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disease v0.558 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.557 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disease v0.557 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.556 COX16 Bryony Thompson Marked gene: COX16 as ready
Mitochondrial disease v0.556 COX16 Bryony Thompson Gene: cox16 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.556 COX16 Bryony Thompson gene: COX16 was added
gene: COX16 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to 33169484
Phenotypes for gene: COX16 were set to Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Review for gene: COX16 was set to AMBER
Added comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain.
Sources: Literature
Mendeliome v0.5503 COX16 Bryony Thompson Marked gene: COX16 as ready
Mendeliome v0.5503 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5503 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mendeliome v0.5503 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5502 COX16 Bryony Thompson gene: COX16 was added
gene: COX16 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to 33169484
Phenotypes for gene: COX16 were set to Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Review for gene: COX16 was set to AMBER
Added comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain (RC)
Sources: Literature
Mendeliome v0.5501 THBD Bryony Thompson Classified gene: THBD as Green List (high evidence)
Mendeliome v0.5501 THBD Bryony Thompson Gene: thbd has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.206 THBD Bryony Thompson Publications for gene: THBD were set to 25564403; 32634856
Mendeliome v0.5500 THBD Bryony Thompson reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32634856, 25564403, 32935436, 25049278, 27436851, 28267383, 10627464; Phenotypes: Thrombomodulin‐associated coagulopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.205 THBD Bryony Thompson Classified gene: THBD as Green List (high evidence)
Bleeding and Platelet Disorders v0.205 THBD Bryony Thompson Gene: thbd has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.204 THBD Bryony Thompson reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32634856, 25564403, 32935436, 25049278, 27436851, 28267383, 10627464; Phenotypes: Thrombomodulin‐associated coagulopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5500 KCNJ18 Zornitza Stark Marked gene: KCNJ18 as ready
Mendeliome v0.5500 KCNJ18 Zornitza Stark Gene: kcnj18 has been classified as Red List (Low Evidence).
Mendeliome v0.5500 KCNJ18 Zornitza Stark gene: KCNJ18 was added
gene: KCNJ18 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ18 were set to 20074522; 27008341
Phenotypes for gene: KCNJ18 were set to {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239
Review for gene: KCNJ18 was set to RED
Added comment: Six variants reported in original publication, however note lack of segregation data and limited functional data. Subsequently, concerns raised about high nucleotide sequence homology between multiple potassium channel genes, with variant misattribution.
Sources: Expert Review
Muscular dystrophy and myopathy_Paediatric v0.79 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Muscular dystrophy and myopathy_Paediatric v0.79 DPM3 Zornitza Stark Gene: dpm3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.79 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Muscular dystrophy and myopathy_Paediatric v0.78 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Muscular dystrophy and myopathy_Paediatric v0.77 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.76 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5499 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Mendeliome v0.5499 DPM3 Zornitza Stark Gene: dpm3 has been classified as Green List (High Evidence).
Mendeliome v0.5499 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Mendeliome v0.5498 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Mendeliome v0.5497 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5496 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.237 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Congenital Disorders of Glycosylation v0.237 DPM3 Zornitza Stark Gene: dpm3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.237 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Congenital Disorders of Glycosylation v0.236 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Congenital Disorders of Glycosylation v0.235 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.234 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5496 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Mendeliome v0.5496 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Mendeliome v0.5496 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600
Mendeliome v0.5495 B3GAT3 Zornitza Stark Publications for gene: B3GAT3 were set to
Mendeliome v0.5494 B3GAT3 Zornitza Stark Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5493 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26754439, 31988067, 26086840, 25893793, 21763480, 24668659; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.234 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Congenital Disorders of Glycosylation v0.234 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.234 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600
Congenital Disorders of Glycosylation v0.233 B3GAT3 Zornitza Stark Publications for gene: B3GAT3 were set to
Congenital Disorders of Glycosylation v0.232 B3GAT3 Zornitza Stark Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.231 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26754439, 31988067, 26086840, 25893793, 21763480, 24668659; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5493 SLC10A7 Zornitza Stark Marked gene: SLC10A7 as ready
Mendeliome v0.5493 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Mendeliome v0.5493 SLC10A7 Zornitza Stark Phenotypes for gene: SLC10A7 were changed from to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363
Mendeliome v0.5492 SLC10A7 Zornitza Stark Publications for gene: SLC10A7 were set to
Mendeliome v0.5491 SLC10A7 Zornitza Stark Mode of inheritance for gene: SLC10A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5490 SLC10A7 Zornitza Stark reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30082715, 29878199, 31191616; Phenotypes: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Marked gene: SLC10A7 as ready
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Classified gene: SLC10A7 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.230 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715; 29878199; 31191616
Phenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363
Review for gene: SLC10A7 was set to GREEN
Added comment: More than 5 unrelated families reported with bi-allelic variants in this gene and skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. Gene product has a putative role in the biosynthesis and trafficking of glycoproteins and glycosaminoglycans (proteoglycans).
Sources: Expert list
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Classified gene: SLC9A7 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.228 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A7 were set to 30335141
Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108, OMIM #301024
Review for gene: SLC9A7 was set to AMBER
Added comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect.
Sources: Expert list
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Marked gene: VMA21 as ready
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Classified gene: VMA21 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.226 VMA21 Zornitza Stark gene: VMA21 was added
gene: VMA21 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: VMA21 were set to 27916343; 25809233; 23315026
Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy (MIM#310440)
Review for gene: VMA21 was set to GREEN
Added comment: More than 15 families reported. Note many of the variants are intronic. Gene product participates in the assembly of the V-ATPase.
Sources: Expert list
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Marked gene: PIGU as ready
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Classified gene: PIGU as Green List (high evidence)
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.224 PIGU Zornitza Stark gene: PIGU was added
gene: PIGU was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Expert list
Congenital Disorders of Glycosylation v0.223 PIGP Zornitza Stark edited their review of gene: PIGP: Changed publications: 28334793, 31139695, 32042915
Congenital Disorders of Glycosylation v0.223 PIGP Zornitza Stark Publications for gene: PIGP were set to 31139695; 32042915
Genetic Epilepsy v0.934 PIGP Zornitza Stark Phenotypes for gene: PIGP were changed from Epileptic encephalopathy, early infantile, 55, MIM# 617599 to Developmental and epileptic encephalopathy 55, MIM# 617599
Genetic Epilepsy v0.933 PIGP Zornitza Stark edited their review of gene: PIGP: Changed phenotypes: Developmental and epileptic encephalopathy 55, MIM# 617599
Mendeliome v0.5490 PIGP Zornitza Stark Phenotypes for gene: PIGP were changed from Epileptic encephalopathy, early infantile, 55, MIM# 617599 to Developmental and epileptic encephalopathy 55, MIM# 617599
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Marked gene: PIGP as ready
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Gene: pigp has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Classified gene: PIGP as Green List (high evidence)
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Gene: pigp has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.221 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 31139695; 32042915
Phenotypes for gene: PIGP were set to Developmental and epileptic encephalopathy 55, MIM# 617599
Review for gene: PIGP was set to GREEN
Added comment: Seven individuals from three unrelated families reported. Severe disorder characterised by early-onset seizures, and intellectual disability.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3227 PIGK Zornitza Stark Marked gene: PIGK as ready
Intellectual disability syndromic and non-syndromic v0.3227 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3227 PIGK Zornitza Stark Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Intellectual disability syndromic and non-syndromic v0.3226 PIGK Zornitza Stark edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Genetic Epilepsy v0.933 PIGK Zornitza Stark Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Genetic Epilepsy v0.932 PIGK Zornitza Stark edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Mendeliome v0.5489 PIGK Zornitza Stark Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Mendeliome v0.5488 PIGK Zornitza Stark edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Marked gene: PIGK as ready
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.219 PIGK Zornitza Stark gene: PIGK was added
gene: PIGK was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Review for gene: PIGK was set to GREEN
Added comment: 12 individuals from 9 unrelated families reported.
Sources: Expert list
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Marked gene: PIGH as ready
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.932 PIGH Zornitza Stark Marked gene: PIGH as ready
Genetic Epilepsy v0.932 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.932 PIGH Zornitza Stark Phenotypes for gene: PIGH were changed from to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010
Genetic Epilepsy v0.931 PIGH Zornitza Stark Publications for gene: PIGH were set to
Genetic Epilepsy v0.930 PIGH Zornitza Stark Mode of inheritance for gene: PIGH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.929 PIGH Zornitza Stark reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573052, 29603516, 33156547; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.499 PIGH Zornitza Stark Classified gene: PIGH as Green List (high evidence)
Microcephaly v0.499 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Microcephaly v0.498 PIGH Zornitza Stark edited their review of gene: PIGH: Added comment: Three further families reported, including two sibs with microcephaly.; Changed rating: GREEN; Changed publications: 29573052, 33156547, 29603516
Mendeliome v0.5488 PIGH Zornitza Stark Publications for gene: PIGH were set to 29573052; 29603516
Mendeliome v0.5487 PIGH Zornitza Stark edited their review of gene: PIGH: Added comment: Further three families reported.

Common clinical features include developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies.; Changed publications: 29573052, 29603516, 33156547
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Classified gene: PIGH as Green List (high evidence)
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.217 PIGH Zornitza Stark gene: PIGH was added
gene: PIGH was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 33156547; 29573052; 29603516
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010
Review for gene: PIGH was set to GREEN
Added comment: Six unrelated families reported, common clinical features include developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3226 PIGB Zornitza Stark Phenotypes for gene: PIGB were changed from Epileptic encephalopathy, early infantile, 80; OMIM #618580 to Developmental and epileptic encephalopathy 80, MIM# 618580
Intellectual disability syndromic and non-syndromic v0.3225 PIGB Zornitza Stark reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5487 PIGB Zornitza Stark Phenotypes for gene: PIGB were changed from Epileptic encephalopathy, early infantile, 80; OMIM #618580 to Developmental and epileptic encephalopathy 80, MIM# 618580
Mendeliome v0.5486 PIGB Zornitza Stark edited their review of gene: PIGB: Changed phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580
Genetic Epilepsy v0.929 PIGB Zornitza Stark Phenotypes for gene: PIGB were changed from Epileptic encephalopathy, early infantile, 80; OMIM #618580 to Developmental and epileptic encephalopathy 80, MIM# 618580
Genetic Epilepsy v0.928 PIGB Zornitza Stark edited their review of gene: PIGB: Changed phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Marked gene: PIGB as ready
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.215 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Developmental and epileptic encephalopathy 80 618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Expert list
Genetic Epilepsy v0.928 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Genetic Epilepsy v0.928 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.928 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Genetic Epilepsy v0.927 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Genetic Epilepsy v0.926 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.925 GPAA1 Zornitza Stark reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3225 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Intellectual disability syndromic and non-syndromic v0.3225 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3225 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Intellectual disability syndromic and non-syndromic v0.3224 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Intellectual disability syndromic and non-syndromic v0.3223 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3222 GPAA1 Zornitza Stark reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5486 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Mendeliome v0.5486 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Mendeliome v0.5486 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810
Mendeliome v0.5485 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Mendeliome v0.5484 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5483 GPAA1 Zornitza Stark Deleted their comment
Mendeliome v0.5483 GPAA1 Zornitza Stark edited their review of gene: GPAA1: Added comment: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.; Changed publications: 29100095
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Classified gene: GPAA1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.213 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPAA1 were set to 29100095
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Review for gene: GPAA1 was set to GREEN
Added comment: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
Sources: Expert Review
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Marked Region: ISCA-37400-Loss as ready
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Classified Region: ISCA-37400-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.24 ISCA-37400-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37400-Loss.
Common deletion and duplication syndromes v0.24 ISCA-37400-Loss Zornitza Stark Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913; autism; intellectual disability; seizures
Review for Region: ISCA-37400-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37400-Gain.
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Marked Region: ISCA-37400-Gain as ready
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Region: isca-37400-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Classified Region: ISCA-37400-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Region: isca-37400-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.22 ISCA-37400-Gain Zornitza Stark Region: ISCA-37400-Gain was added
Region: ISCA-37400-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881
Phenotypes for Region: ISCA-37400-Gain were set to Chromosome 16p11.2 duplication syndrome, MIM# 614671; intellectual disability; autism
Review for Region: ISCA-37400-Gain was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Marked Region: ISCA-37397-Loss as ready
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Classified Region: ISCA-37397-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.20 ISCA-37397-Loss Zornitza Stark changed review comment from: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert list; to: Well established recurrent CNV, distinct from the proximal 22q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.20 ISCA-37397-Loss Zornitza Stark Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37397-Loss.
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies
Review for Region: ISCA-37397-Loss was set to GREEN
Added comment: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Marked Region: ISCA-37397-Gain as ready
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Classified Region: ISCA-37397-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.18 ISCA-37397-Gain Zornitza Stark Region: ISCA-37397-Gain was added
Region: ISCA-37397-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37397-Gain.
Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Gain were set to 21671380; 31479204
Phenotypes for Region: ISCA-37397-Gain were set to Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal; intellectual disability; dysmorphic features; congenital anomalies
Review for Region: ISCA-37397-Gain was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.17 ISCA-37394-Loss Zornitza Stark Phenotypes for Region: ISCA-37394-Loss were changed from Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly; intellectual disability
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Marked Region: ISCA-37396-Loss as ready
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Classified Region: ISCA-37396-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.15 ISCA-37396-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37396-Loss.
Common deletion and duplication syndromes v0.15 ISCA-37396-Loss Zornitza Stark Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive
Review for Region: ISCA-37396-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.14 ISCA-37392-Gain Zornitza Stark Phenotypes for Region: ISCA-37392-Gain were changed from 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation to Chromosome 7q11.23 duplication syndrome, MIM# 609757; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation
Common deletion and duplication syndromes v0.13 ISCA-37392-Gain Zornitza Stark edited their review of Region: ISCA-37392-Gain: Changed phenotypes: Chromosome 7q11.23 duplication syndrome, MIM# 609757, intellectual disability, hypotonia, macrocephaly, seizures, aortic dilatation
Common deletion and duplication syndromes v0.13 ISCA-37394-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37394-Loss.
Common deletion and duplication syndromes v0.13 ISCA-37392-Loss Zornitza Stark Phenotypes for Region: ISCA-37392-Loss were changed from Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease to Williams-Beuren syndrome, MIM# 194050; intellectual disability; growth retardation; cardiovascular disease
Common deletion and duplication syndromes v0.12 ISCA-37392-Loss Zornitza Stark edited their review of Region: ISCA-37392-Loss: Changed phenotypes: Williams-Beuren syndrome, MIM# 194050, intellectual disability, growth retardation, cardiovascular disease
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Marked Region: ISCA-37394-Loss as ready
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Classified Region: ISCA-37394-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.11 ISCA-37394-Loss Zornitza Stark Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37394-Loss were set to 20691407
Phenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability
Review for Region: ISCA-37394-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.10 ISCA-37390-Loss Zornitza Stark Phenotypes for Region: ISCA-37390-Loss were changed from Cri-du-chat syndrome; intellectual disability; microcephaly to Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly
Common deletion and duplication syndromes v0.9 ISCA-37390-Loss Zornitza Stark edited their review of Region: ISCA-37390-Loss: Changed phenotypes: Cri-du-chat syndrome MIM#123450, intellectual disability, microcephaly
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Classified Region: ISCA-37393-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.8 ISCA-37393-Gain Zornitza Stark Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Review for Region: ISCA-37393-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Marked Region: ISCA-37392-Loss as ready
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Classified Region: ISCA-37392-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.6 ISCA-37392-Loss Zornitza Stark Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review
SV/CNV tags were added to Region: ISCA-37392-Loss.
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease
Review for Region: ISCA-37392-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37392-Gain.
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Marked Region: ISCA-37392-Gain as ready
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Region: isca-37392-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Classified Region: ISCA-37392-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Region: isca-37392-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.4 ISCA-37392-Gain Zornitza Stark Region: ISCA-37392-Gain was added
Region: ISCA-37392-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review
Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Gain were set to 33187326; 27615053; 26610320
Phenotypes for Region: ISCA-37392-Gain were set to 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation
Review for Region: ISCA-37392-Gain was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.3 ISCA-37390-Loss Zornitza Stark Marked Region: ISCA-37390-Loss as ready
Common deletion and duplication syndromes v0.3 ISCA-37390-Loss Zornitza Stark Region: isca-37390-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.3 ISCA-37390-Loss Zornitza Stark Publications for Region: ISCA-37390-Loss were set to
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark edited their review of Region: ISCA-37390-Loss: Changed publications: 16953888
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37390-Loss.
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark Classified Region: ISCA-37390-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark Region: isca-37390-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.1 ISCA-37390-Loss Zornitza Stark Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37390-Loss were set to Cri-du-chat syndrome; intellectual disability; microcephaly
Review for Region: ISCA-37390-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.0 Zornitza Stark Added Panel Common deletion and duplication syndromes
Set panel types to: Victorian Clinical Genetics Services; Rare Disease
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Leukodystrophy v0.210 KARS Zornitza Stark Marked gene: KARS as ready
Leukodystrophy v0.210 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Leukodystrophy v0.210 KARS Zornitza Stark Phenotypes for gene: KARS were changed from deafness and leukodystrophy to Deafness, autosomal recessive 89, MIM# 613916; Leukodystrophy
Leukodystrophy v0.209 KARS Zornitza Stark Classified gene: KARS as Green List (high evidence)
Leukodystrophy v0.209 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.172 KARS Zornitza Stark Marked gene: KARS as ready
Additional findings_Paediatric v0.172 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.172 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Hearing loss; Charcot-Marie-Tooth disease, recessive intermediate to deafness with progressive leukodystrophy
Additional findings_Paediatric v0.171 KARS Zornitza Stark Publications for gene: KARS were set to
Additional findings_Paediatric v0.170 KARS Zornitza Stark Classified gene: KARS as Green List (high evidence)
Additional findings_Paediatric v0.170 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Classified gene: HOMER2 as Green List (high evidence)
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.168 HGF Zornitza Stark Marked gene: HGF as ready
Additional findings_Paediatric v0.168 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.168 HGF Zornitza Stark Classified gene: HGF as Green List (high evidence)
Additional findings_Paediatric v0.168 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Familial hypercholesterolaemia v0.14 LDLR Zornitza Stark Marked gene: LDLR as ready
Familial hypercholesterolaemia v0.14 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Familial hypercholesterolaemia v0.14 LDLR Zornitza Stark Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1 143890
Familial hypercholesterolaemia v0.13 LDLR Zornitza Stark Publications for gene: LDLR were set to
Familial hypercholesterolaemia v0.12 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome to Perrault syndrome; autosomal recessive sensorineural hearing loss
Additional findings_Paediatric v0.166 HARS2 Zornitza Stark Classified gene: HARS2 as Green List (high evidence)
Additional findings_Paediatric v0.166 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Hearing loss to Autosomal dominant hearing loss, MIM# 608641
Additional findings_Paediatric v0.164 GRHL2 Zornitza Stark Classified gene: GRHL2 as Green List (high evidence)
Additional findings_Paediatric v0.164 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Mendeliome v0.5483 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Mendeliome v0.5483 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Mendeliome v0.5483 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Occipital horn syndrome, 304150; X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489
Mendeliome v0.5482 ATP7A Zornitza Stark Publications for gene: ATP7A were set to
Mendeliome v0.5481 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral vascular malformations v0.14 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Cerebral vascular malformations v0.14 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.14 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Moya Moya; intellectual disability to Moya Moya; Sifrim-Hitz-Weiss syndrome, MIM# 617159
Cerebral vascular malformations v0.13 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Cerebral vascular malformations v0.13 SETD5 Zornitza Stark Gene: setd5 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.13 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from Moya Moya; intellectual disability to Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761
Mendeliome v0.5480 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Mendeliome v0.5480 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Mendeliome v0.5480 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from to Heimler syndrome 1 234580; Peroxisome biogenesis disorder 1A (Zellweger) 214100; . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Mendeliome v0.5479 PEX1 Zornitza Stark Publications for gene: PEX1 were set to
Mendeliome v0.5478 PEX1 Zornitza Stark Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.12 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 to Moya Moya; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Cerebral vascular malformations v0.11 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Cerebral vascular malformations v0.11 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.11 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from Moya Moya; intellectual disability to Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Intellectual disability syndromic and non-syndromic v0.3222 HDAC4 Bryony Thompson Classified gene: HDAC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3222 HDAC4 Bryony Thompson Gene: hdac4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3221 HDAC4 Bryony Thompson reviewed gene: HDAC4: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2020.100015; Phenotypes: Intellectual disability, hypotonia, dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5477 HDAC4 Bryony Thompson Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962
Mendeliome v0.5476 HDAC4 Bryony Thompson Classified gene: HDAC4 as Green List (high evidence)
Mendeliome v0.5476 HDAC4 Bryony Thompson Gene: hdac4 has been classified as Green List (High Evidence).
Mendeliome v0.5475 HDAC4 Bryony Thompson Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome
Mendeliome v0.5474 HDAC4 Bryony Thompson reviewed gene: HDAC4: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2020.100015; Phenotypes: Intellectual disability, hypotonia, dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.163 LARS2 Lilian Downie reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.208 KARS Lilian Downie gene: KARS was added
gene: KARS was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 30737337; 31116475; 30715177
Phenotypes for gene: KARS were set to deafness and leukodystrophy
Review for gene: KARS was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.163 KARS Lilian Downie reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30737337, 31116475, 30715177; Phenotypes: deafness with progressive leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 HOMER2 Lilian Downie gene: HOMER2 was added
gene: HOMER2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness
Review for gene: HOMER2 was set to GREEN
Added comment: Moderate by ClinGen hearing loss expert committee. Isolated hearing impairment onset in first decade of life.
Sources: Expert list
Additional findings_Paediatric v0.163 HGF Lilian Downie reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive non syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.11 LDLR Elena Savva reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10978268; Phenotypes: Hypercholesterolemia, familial, 1 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Additional findings_Paediatric v0.163 HARS2 Lilian Downie reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 GRHL2 Lilian Downie reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5474 SEC61A1 Elena Savva reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28782633, 27392076; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Neutropaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5474 ATP7A Elena Savva reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21221114; Phenotypes: Occipital horn syndrome, 304150, X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral vascular malformations v0.10 CHD4 Sue White gene: CHD4 was added
gene: CHD4 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD4 were set to 31474762
Phenotypes for gene: CHD4 were set to Moya Moya; intellectual disability
Penetrance for gene: CHD4 were set to Incomplete
Review for gene: CHD4 was set to RED
Added comment: 5 individuals reported with Moya Moya and ID, but only in one was de novo inheritance confirmed. 4 missense variants and one canonical splice.
Sources: Literature
Cerebral vascular malformations v0.9 SETD5 Sue White gene: SETD5 was added
gene: SETD5 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD5 were set to 31474762
Phenotypes for gene: SETD5 were set to Moya Moya; intellectual disability
Penetrance for gene: SETD5 were set to Complete
Review for gene: SETD5 was set to RED
Added comment: single family reported with de novo SETD5 frameshift in a child with ID and Moya Moya. 2 other families with novel missense and concordant phenotypes but no parental segregation performed.
Sources: Literature
Cerebral vascular malformations v0.8 CNOT3 Sue White Classified gene: CNOT3 as Amber List (moderate evidence)
Cerebral vascular malformations v0.8 CNOT3 Sue White Gene: cnot3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.7 CNOT3 Sue White gene: CNOT3 was added
gene: CNOT3 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT3 were set to 31474762
Phenotypes for gene: CNOT3 were set to Moya Moya; intellectual disability
Penetrance for gene: CNOT3 were set to Complete
Review for gene: CNOT3 was set to AMBER
Added comment: 2 families with de novo variants (one nonsense and one missense) in individuals with ID and Moya Moya
Sources: Literature
Mendeliome v0.5474 PEX1 Elena Savva reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26387595; Phenotypes: Heimler syndrome 1 234580, Peroxisome biogenesis disorder 1A (Zellweger) 214100, . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Marked gene: TMEM218 as ready
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Classified gene: TMEM218 as Green List (high evidence)
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.154 TMEM218 Bryony Thompson gene: TMEM218 was added
gene: TMEM218 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Marked gene: TMEM218 as ready
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Classified gene: TMEM218 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.89 TMEM218 Bryony Thompson gene: TMEM218 was added
gene: TMEM218 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry.
Sources: Literature
Mendeliome v0.5474 TMEM218 Bryony Thompson Marked gene: TMEM218 as ready
Mendeliome v0.5474 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Mendeliome v0.5474 TMEM218 Bryony Thompson Classified gene: TMEM218 as Green List (high evidence)
Mendeliome v0.5474 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Mendeliome v0.5473 TMEM218 Bryony Thompson gene: TMEM218 was added
gene: TMEM218 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry.
Sources: Literature
Mendeliome v0.5472 AGBL1 Zornitza Stark Marked gene: AGBL1 as ready
Mendeliome v0.5472 AGBL1 Zornitza Stark Gene: agbl1 has been classified as Red List (Low Evidence).
Mendeliome v0.5472 AGBL1 Zornitza Stark gene: AGBL1 was added
gene: AGBL1 was added to Mendeliome. Sources: Expert Review
disputed tags were added to gene: AGBL1.
Mode of inheritance for gene: AGBL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGBL1 were set to 24094747; 31555324
Phenotypes for gene: AGBL1 were set to Corneal dystrophy, Fuchs endothelial, 8, MIM# 615523
Review for gene: AGBL1 was set to RED
Added comment: Gene disease association first reported in 2013 in PMID 24094747, in a large multigenerational family. However, note the variant reported, p.Arg1028Ter is present in over 400 hets in gnomad. Another variant reported in same paper, p.Cys990Ser in three unrelated individuals, is present in over 300 hets in gnomad and 1 hom.

Two further variants reported in PMID 31555324, one is missense, p.Arg748His, present in 60 hets, and the other, p.Arg1028Ter, is present is the variant identified in the previous publication, present in over 400 hets.

These variant frequencies are out of keeping for a rare disorder.
Sources: Expert Review
Mendeliome v0.5471 TLE6 Zornitza Stark Marked gene: TLE6 as ready
Mendeliome v0.5471 TLE6 Zornitza Stark Gene: tle6 has been classified as Green List (High Evidence).
Mendeliome v0.5471 TLE6 Zornitza Stark Classified gene: TLE6 as Green List (high evidence)
Mendeliome v0.5471 TLE6 Zornitza Stark Gene: tle6 has been classified as Green List (High Evidence).
Mendeliome v0.5470 TLE6 Zornitza Stark gene: TLE6 was added
gene: TLE6 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TLE6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TLE6 were set to 26537248; 31897846
Phenotypes for gene: TLE6 were set to Preimplantation embryonic lethality, MIM# 616814
Review for gene: TLE6 was set to GREEN
Added comment: At least 5 individuals reported with bi-allelic variants and early embryonic lethality.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3221 OGT Zornitza Stark Marked gene: OGT as ready
Intellectual disability syndromic and non-syndromic v0.3221 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3221 OGT Zornitza Stark Phenotypes for gene: OGT were changed from to Mental retardation, X-linked 106, MIM# 300997
Intellectual disability syndromic and non-syndromic v0.3220 OGT Zornitza Stark Publications for gene: OGT were set to
Intellectual disability syndromic and non-syndromic v0.3219 OGT Zornitza Stark Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3218 OGT Zornitza Stark reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5469 OGT Zornitza Stark Marked gene: OGT as ready
Mendeliome v0.5469 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Mendeliome v0.5469 OGT Zornitza Stark Phenotypes for gene: OGT were changed from to Mental retardation, X-linked 106, MIM# 300997
Mendeliome v0.5468 OGT Zornitza Stark Publications for gene: OGT were set to
Mendeliome v0.5467 OGT Zornitza Stark Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5466 OGT Zornitza Stark reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Marked gene: OGT as ready
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Classified gene: OGT as Green List (high evidence)
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.211 OGT Zornitza Stark gene: OGT was added
gene: OGT was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OGT were set to 28302723; 28584052; 31296563; 31627256; 29769320; 29606577
Phenotypes for gene: OGT were set to Mental retardation, X-linked 106, MIM# 300997
Review for gene: OGT was set to GREEN
Added comment: OGT encodes O-GlcNAc transferase subunit p110. More than 5 unrelated families reported, presenting with ID, hypotonia, eye abnormalities, hearing impairment, behavioural problems, short stature, dysmorphism. Functional data supports gene-disease association.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.209 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688; 28331220
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Review for gene: EXTL3 was set to GREEN
Added comment: EXTL3 is a glycosyltransferase involved in the synthesis of heparin and heparan sulfate. 8 unrelated families reported with skeletal dysplasia +/- immune deficiency and neurodevelopmental abnormalities.
Sources: Expert Review
Mendeliome v0.5466 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Mendeliome v0.5466 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Mendeliome v0.5466 EXTL3 Zornitza Stark Phenotypes for gene: EXTL3 were changed from to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Mendeliome v0.5465 EXTL3 Zornitza Stark Publications for gene: EXTL3 were set to
Mendeliome v0.5464 EXTL3 Zornitza Stark Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5463 EXTL3 Zornitza Stark reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688, 28331220; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Atrial Fibrillation v0.2 NPPA Ain Roesley reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18614783, 20064500, 31034774, 31077706; Phenotypes: Atrial fibrillation, familial, 6, (MIM#612201); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5463 SSR3 Zornitza Stark Marked gene: SSR3 as ready
Mendeliome v0.5463 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5463 SSR3 Zornitza Stark Classified gene: SSR3 as Amber List (moderate evidence)
Mendeliome v0.5463 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5462 SSR3 Zornitza Stark gene: SSR3 was added
gene: SSR3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SSR3 were set to 30945312
Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation
Review for gene: SSR3 was set to AMBER
Added comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence.
Sources: Literature
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Marked gene: SSR3 as ready
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Classified gene: SSR3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.207 SSR3 Zornitza Stark gene: SSR3 was added
gene: SSR3 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SSR3 were set to 30945312
Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation
Review for gene: SSR3 was set to AMBER
Added comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence.
Sources: Literature
Mendeliome v0.5461 LCP2 Zornitza Stark Marked gene: LCP2 as ready
Mendeliome v0.5461 LCP2 Zornitza Stark Gene: lcp2 has been classified as Red List (Low Evidence).
Mendeliome v0.5461 LCP2 Zornitza Stark gene: LCP2 was added
gene: LCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCP2 were set to 33231617
Phenotypes for gene: LCP2 were set to Severe combined immunodeficiency
Review for gene: LCP2 was set to RED
Added comment: Infant with bi-allelic variants in this gene and early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3218 DPM2 Zornitza Stark Classified gene: DPM2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3218 DPM2 Zornitza Stark Gene: dpm2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3217 DPM2 Zornitza Stark edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689
Mendeliome v0.5460 DPM2 Zornitza Stark Publications for gene: DPM2 were set to 23109149
Mendeliome v0.5459 DPM2 Zornitza Stark Classified gene: DPM2 as Green List (high evidence)
Mendeliome v0.5459 DPM2 Zornitza Stark Gene: dpm2 has been classified as Green List (High Evidence).
Mendeliome v0.5458 DPM2 Zornitza Stark edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689
Congenital Disorders of Glycosylation v0.206 DPM2 Zornitza Stark Publications for gene: DPM2 were set to 23109149
Congenital Disorders of Glycosylation v0.205 DPM2 Zornitza Stark Classified gene: DPM2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.205 DPM2 Zornitza Stark Gene: dpm2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.204 DPM2 Zornitza Stark changed review comment from: Further family reported.; to: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.
Congenital Disorders of Glycosylation v0.204 DPM2 Zornitza Stark edited their review of gene: DPM2: Added comment: Further family reported.; Changed rating: GREEN; Changed publications: 23109149, 33129689
Mendeliome v0.5458 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Mendeliome v0.5458 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Mendeliome v0.5458 ATP6V0A2 Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
Mendeliome v0.5457 ATP6V0A2 Zornitza Stark Publications for gene: ATP6V0A2 were set to
Mendeliome v0.5456 ATP6V0A2 Zornitza Stark Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.204 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Congenital Disorders of Glycosylation v0.204 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.204 ATP6V0A2 Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
Mendeliome v0.5455 ATP6V0A2 Zornitza Stark reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.203 ATP6V0A2 Zornitza Stark Publications for gene: ATP6V0A2 were set to
Congenital Disorders of Glycosylation v0.202 ATP6V0A2 Zornitza Stark Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.201 ATP6V0A2 Zornitza Stark reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Additional findings_Paediatric v0.163 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.163 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Additional findings_Paediatric v0.162 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Additional findings_Paediatric v0.161 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Additional findings_Paediatric v0.161 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.160 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3217 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Intellectual disability syndromic and non-syndromic v0.3217 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3217 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776
Intellectual disability syndromic and non-syndromic v0.3216 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Intellectual disability syndromic and non-syndromic v0.3215 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.925 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Genetic Epilepsy v0.925 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.925 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776
Genetic Epilepsy v0.924 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Genetic Epilepsy v0.923 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.922 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5455 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Mendeliome v0.5455 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Mendeliome v0.5455 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Polycystic kidney disease
Mendeliome v0.5454 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Mendeliome v0.5453 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5452 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210, Polycystic kidney disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.201 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Congenital Disorders of Glycosylation v0.201 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.201 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Congenital Disorders of Glycosylation v0.200 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Congenital Disorders of Glycosylation v0.199 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.198 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3214 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Intellectual disability syndromic and non-syndromic v0.3214 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3214 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104
Intellectual disability syndromic and non-syndromic v0.3213 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Intellectual disability syndromic and non-syndromic v0.3212 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3211 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5452 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih, MIM# 608104 to Congenital disorder of glycosylation, type Ih, MIM# 608104; Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Mendeliome v0.5451 ALG8 Zornitza Stark Publications for gene: ALG8 were set to 26066342
Mendeliome v0.5450 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5449 ALG8 Zornitza Stark changed review comment from: Review of 15 reported individuals in PMID: 26066342: multiple prenatal abnormalities were present in 6/12 patients. In 13/15, there were symptoms at birth, 9/15 died within 12 months. Birth weight was appropriate in 11/12, only one was small for gestational age. Prematurity was reported in 7/12. Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. Common dysmorphic signs were: low set ears, macroglossia, hypertelorism, pes equinovarus, campto- and brachydactyly (13/15). In 10/11, there was coagulopathy, in 8/11 elevated transaminases; thrombocytopenia was present in 9/9. Eye involvement was reported in 9/14. CDG typical skin involvement was reported in 8/13.; to: Bi-allelic variants and CDG: Review of 15 reported individuals in PMID: 26066342. Multiple prenatal abnormalities were present in 6/12 patients. In 13/15, there were symptoms at birth, 9/15 died within 12 months. Birth weight was appropriate in 11/12, only one was small for gestational age. Prematurity was reported in 7/12. Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. Common dysmorphic signs were: low set ears, macroglossia, hypertelorism, pes equinovarus, campto- and brachydactyly (13/15). In 10/11, there was coagulopathy, in 8/11 elevated transaminases; thrombocytopenia was present in 9/9. Eye involvement was reported in 9/14. CDG typical skin involvement was reported in 8/13.
Mendeliome v0.5449 ALG8 Zornitza Stark edited their review of gene: ALG8: Added comment: Monoallelic variants are associated with polycystic liver disease.; Changed publications: 26066342, 28375157, 15235028; Changed phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104, Polycystic liver disease 3 with or without kidney cysts, MIM# 617874; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.922 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Genetic Epilepsy v0.922 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.922 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih, MIM# 608104 to Congenital disorder of glycosylation, type Ih, MIM# 608104
Genetic Epilepsy v0.921 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104
Genetic Epilepsy v0.920 ALG8 Zornitza Stark Publications for gene: ALG8 were set to 26066342
Genetic Epilepsy v0.920 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Genetic Epilepsy v0.919 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.918 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5449 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Mendeliome v0.5449 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Mendeliome v0.5449 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104
Mendeliome v0.5448 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Mendeliome v0.5447 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5446 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.198 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Congenital Disorders of Glycosylation v0.198 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.198 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104
Congenital Disorders of Glycosylation v0.197 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Congenital Disorders of Glycosylation v0.196 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.195 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3211 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Intellectual disability syndromic and non-syndromic v0.3211 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3211 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110
Intellectual disability syndromic and non-syndromic v0.3210 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Intellectual disability syndromic and non-syndromic v0.3209 ALG3 Zornitza Stark Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3208 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.918 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Genetic Epilepsy v0.918 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.918 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110
Genetic Epilepsy v0.917 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Genetic Epilepsy v0.916 ALG3 Zornitza Stark Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.915 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5446 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Mendeliome v0.5446 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Mendeliome v0.5446 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110
Mendeliome v0.5445 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Mendeliome v0.5444 ALG3 Zornitza Stark Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5443 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.195 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Congenital Disorders of Glycosylation v0.195 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.195 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110
Congenital Disorders of Glycosylation v0.194 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Congenital Disorders of Glycosylation v0.193 ALG3 Zornitza Stark Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.192 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5443 SLC3A2 Zornitza Stark Phenotypes for gene: SLC3A2 were changed from to Autism
Mendeliome v0.5442 SLC3A2 Zornitza Stark Publications for gene: SLC3A2 were set to
Mendeliome v0.5441 SLC3A2 Zornitza Stark reviewed gene: SLC3A2: Rating: RED; Mode of pathogenicity: None; Publications: 31701662; Phenotypes: Autism; Mode of inheritance: None
Mendeliome v0.5441 SLC3A2 Naomi Baker changed review comment from: No evidence of mendelian gene-disease association reported in the literature.; to: Weak evidence of mendelian gene-disease association reported in the literature.

Three monoallelic missense variants reported in patients with Autism spectrum disorder (ASD) from one publication (PMID: 31701662).
Mendeliome v0.5441 SLC3A2 Zornitza Stark Marked gene: SLC3A2 as ready
Mendeliome v0.5441 SLC3A2 Zornitza Stark Gene: slc3a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5441 SLC3A2 Zornitza Stark Classified gene: SLC3A2 as Red List (low evidence)
Mendeliome v0.5441 SLC3A2 Zornitza Stark Gene: slc3a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5440 HOXA4 Zornitza Stark Marked gene: HOXA4 as ready
Mendeliome v0.5440 HOXA4 Zornitza Stark Gene: hoxa4 has been classified as Red List (Low Evidence).
Mendeliome v0.5440 HOXA4 Zornitza Stark Publications for gene: HOXA4 were set to 33193662
Mendeliome v0.5439 HOXA4 Zornitza Stark Phenotypes for gene: HOXA4 were changed from to Microtia-Atresia; CAKUT
Mendeliome v0.5438 HOXA4 Zornitza Stark Publications for gene: HOXA4 were set to
Mendeliome v0.5437 HOXA4 Zornitza Stark Mode of inheritance for gene: HOXA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5436 HOXA4 Zornitza Stark Classified gene: HOXA4 as Red List (low evidence)
Mendeliome v0.5436 HOXA4 Zornitza Stark Gene: hoxa4 has been classified as Red List (Low Evidence).
Mendeliome v0.5435 ASTE1 Zornitza Stark Marked gene: ASTE1 as ready
Mendeliome v0.5435 ASTE1 Zornitza Stark Gene: aste1 has been classified as Red List (Low Evidence).
Mendeliome v0.5435 ASTE1 Zornitza Stark Phenotypes for gene: ASTE1 were changed from to palmar and plantar fibromatosis
Mendeliome v0.5434 ASTE1 Zornitza Stark Publications for gene: ASTE1 were set to
Mendeliome v0.5433 ASTE1 Zornitza Stark Mode of inheritance for gene: ASTE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5432 ASTE1 Zornitza Stark Classified gene: ASTE1 as Red List (low evidence)
Mendeliome v0.5432 ASTE1 Zornitza Stark Gene: aste1 has been classified as Red List (Low Evidence).
Mendeliome v0.5431 SLC3A2 Naomi Baker reviewed gene: SLC3A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.5431 HOXA4 Naomi Baker reviewed gene: HOXA4: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33193662; Phenotypes: Microtia-Atresia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5431 ASTE1 Naomi Baker reviewed gene: ASTE1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29104234; Phenotypes: palmar and plantar fibromatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5431 SMARCA1 Zornitza Stark Marked gene: SMARCA1 as ready
Mendeliome v0.5431 SMARCA1 Zornitza Stark Gene: smarca1 has been classified as Red List (Low Evidence).
Mendeliome v0.5431 SMARCA1 Zornitza Stark Phenotypes for gene: SMARCA1 were changed from to Intellectual disability
Mendeliome v0.5430 SMARCA1 Zornitza Stark Publications for gene: SMARCA1 were set to
Mendeliome v0.5429 SMARCA1 Zornitza Stark Mode of inheritance for gene: SMARCA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5428 SMARCA1 Zornitza Stark Classified gene: SMARCA1 as Red List (low evidence)
Mendeliome v0.5428 SMARCA1 Zornitza Stark Gene: smarca1 has been classified as Red List (Low Evidence).
Mendeliome v0.5427 CDKAL1 Zornitza Stark Marked gene: CDKAL1 as ready
Mendeliome v0.5427 CDKAL1 Zornitza Stark Gene: cdkal1 has been classified as Red List (Low Evidence).
Mendeliome v0.5427 CDKAL1 Zornitza Stark Classified gene: CDKAL1 as Red List (low evidence)
Mendeliome v0.5427 CDKAL1 Zornitza Stark Gene: cdkal1 has been classified as Red List (Low Evidence).
Mendeliome v0.5426 TCHH Zornitza Stark Marked gene: TCHH as ready
Mendeliome v0.5426 TCHH Zornitza Stark Gene: tchh has been classified as Red List (Low Evidence).
Mendeliome v0.5426 TCHH Zornitza Stark Phenotypes for gene: TCHH were changed from to Uncombable hair syndrome 3 MIM#617252
Mendeliome v0.5425 TCHH Zornitza Stark Publications for gene: TCHH were set to
Mendeliome v0.5424 TCHH Zornitza Stark Mode of inheritance for gene: TCHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5423 TCHH Zornitza Stark Classified gene: TCHH as Red List (low evidence)
Mendeliome v0.5423 TCHH Zornitza Stark Gene: tchh has been classified as Red List (Low Evidence).
Mendeliome v0.5422 TCHH Naomi Baker reviewed gene: TCHH: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27866708; Phenotypes: Uncombable hair syndrome 3 MIM#617252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5422 CDKAL1 Naomi Baker reviewed gene: CDKAL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682
Skeletal Dysplasia_Fetal v0.39 CRTAP Zornitza Stark Publications for gene: CRTAP were set to
Mendeliome v0.5422 SMARCA1 Naomi Baker reviewed gene: SMARCA1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26740508, 26539891, 29249292.; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal Dysplasia_Fetal v0.38 CRTAP Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.37 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.51 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Osteogenesis Imperfecta and Osteoporosis v0.51 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.51 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682
Osteogenesis Imperfecta and Osteoporosis v0.50 CRTAP Zornitza Stark Publications for gene: CRTAP were set to
Osteogenesis Imperfecta and Osteoporosis v0.49 CRTAP Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5422 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Mendeliome v0.5422 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Mendeliome v0.5422 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682
Mendeliome v0.5421 CRTAP Zornitza Stark Publications for gene: CRTAP were set to
Mendeliome v0.5420 CRTAP Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3208 USP9X Zornitza Stark Marked gene: USP9X as ready
Intellectual disability syndromic and non-syndromic v0.3208 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3208 USP9X Zornitza Stark Phenotypes for gene: USP9X were changed from to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)
Intellectual disability syndromic and non-syndromic v0.3207 USP9X Zornitza Stark Publications for gene: USP9X were set to
Intellectual disability syndromic and non-syndromic v0.3206 USP9X Zornitza Stark Mode of inheritance for gene: USP9X was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5419 USP9X Zornitza Stark Marked gene: USP9X as ready
Mendeliome v0.5419 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Mendeliome v0.5419 USP9X Zornitza Stark Phenotypes for gene: USP9X were changed from to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)
Mendeliome v0.5418 USP9X Zornitza Stark Publications for gene: USP9X were set to
Mendeliome v0.5417 USP9X Zornitza Stark Mode of inheritance for gene: USP9X 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)
Regression v0.210 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Regression v0.210 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Regression v0.210 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Regression v0.209 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Regression v0.208 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.207 ALG6 Zornitza Stark Classified gene: ALG6 as Red List (low evidence)
Regression v0.207 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Regression v0.206 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.227 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Callosome v0.227 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Callosome v0.227 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Callosome v0.226 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Callosome v0.225 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.224 ALG6 Zornitza Stark Classified gene: ALG6 as Red List (low evidence)
Callosome v0.224 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Callosome v0.223 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.120 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Autism v0.120 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Autism v0.120 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Autism v0.119 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Autism v0.118 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.117 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3205 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Intellectual disability syndromic and non-syndromic v0.3205 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3205 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Intellectual disability syndromic and non-syndromic v0.3204 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Intellectual disability syndromic and non-syndromic v0.3203 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3202 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.915 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Genetic Epilepsy v0.915 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.915 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Genetic Epilepsy v0.914 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Genetic Epilepsy v0.913 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.912 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5416 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Mendeliome v0.5416 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Mendeliome v0.5416 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Mendeliome v0.5415 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Mendeliome v0.5414 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5413 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.192 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Congenital Disorders of Glycosylation v0.192 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.192 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Congenital Disorders of Glycosylation v0.191 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Congenital Disorders of Glycosylation v0.190 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.190 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.155 MOGS Zornitza Stark Marked gene: MOGS as ready
Dystonia and Chorea v0.155 MOGS Zornitza Stark Gene: mogs has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.155 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOGS were set to 33058492
Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056
Review for gene: MOGS was set to RED
Added comment: 7 individuals from 6 unrelated families reported with CDGIIb. Of these, one had prominent dystonia, with forced posture of the head and of both hands, as well as a hyperkinetic movement disorder.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.49 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOGS were set to 31925597; 30587846; 33058492
Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056
Review for gene: MOGS was set to GREEN
Added comment: Six unrelated families reported. Common features include: hypotonia, global developmental delay, feeding problems, seizures, movement disorder, hypogammaglobulinaemia, variable problems with cardiac, dysmorpholology overlapping fingers, short palpebral fissures, micrognathia, can have upsweeping hair at front.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3202 MOGS Zornitza Stark Marked gene: MOGS as ready
Intellectual disability syndromic and non-syndromic v0.3202 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3202 MOGS Zornitza Stark Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056
Intellectual disability syndromic and non-syndromic v0.3201 MOGS Zornitza Stark Publications for gene: MOGS were set to
Intellectual disability syndromic and non-syndromic v0.3200 MOGS Zornitza Stark Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3199 MOGS Zornitza Stark reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.61 MOGS Zornitza Stark Marked gene: MOGS as ready
Predominantly Antibody Deficiency v0.61 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.61 MOGS Zornitza Stark Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056
Predominantly Antibody Deficiency v0.60 MOGS Zornitza Stark Publications for gene: MOGS were set to
Predominantly Antibody Deficiency v0.59 MOGS Zornitza Stark Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.58 MOGS Zornitza Stark reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.912 MOGS Zornitza Stark Marked gene: MOGS as ready
Genetic Epilepsy v0.912 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.912 MOGS Zornitza Stark Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056
Genetic Epilepsy v0.911 MOGS Zornitza Stark Publications for gene: MOGS were set to
Genetic Epilepsy v0.910 MOGS Zornitza Stark Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.909 MOGS Zornitza Stark reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5413 MOGS Zornitza Stark Publications for gene: MOGS were set to 31925597
Mendeliome v0.5412 MOGS Zornitza Stark reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.189 MOGS Zornitza Stark Publications for gene: MOGS were set to 31925597; 30587846
Congenital Disorders of Glycosylation v0.188 MOGS Zornitza Stark edited their review of gene: MOGS: Added comment: Six unrelated families reported.; Changed publications: 31925597, 33058492
Congenital Disorders of Glycosylation v0.188 MOGS Zornitza Stark Publications for gene: MOGS were set to 31925597
Congenital Disorders of Glycosylation v0.187 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Congenital disorder of deglycosylation, MIM# 615273 to Congenital disorder of deglycosylation, MIM# 615273; alacrima, movement disorder, microcephaly, abnormal LFTs
Congenital Disorders of Glycosylation v0.186 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to 24651605; 27388694; 32259258
Additional findings_Paediatric v0.160 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Additional findings_Paediatric v0.160 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.160 GATA3 Zornitza Stark Classified gene: GATA3 as Green List (high evidence)
Additional findings_Paediatric v0.160 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.159 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
Additional findings_Paediatric v0.159 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.159 FOXI1 Zornitza Stark Classified gene: FOXI1 as Green List (high evidence)
Additional findings_Paediatric v0.159 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.158 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Additional findings_Paediatric v0.158 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.158 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Green List (high evidence)
Additional findings_Paediatric v0.158 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.157 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Additional findings_Paediatric v0.157 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.157 EPS8 Zornitza Stark Classified gene: EPS8 as Green List (high evidence)
Additional findings_Paediatric v0.157 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.156 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Additional findings_Paediatric v0.156 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.156 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from Hirschsprung disease; Waardenburg syndrome to Waardenburg syndrome, type 4A, MIM# 277580
Additional findings_Paediatric v0.155 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.154 EDNRB Zornitza Stark Classified gene: EDNRB as Green List (high evidence)
Additional findings_Paediatric v0.154 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.153 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Additional findings_Paediatric v0.153 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.153 COL9A2 Zornitza Stark Phenotypes for gene: COL9A2 were changed from Stickler syndrome to Stickler syndrome, type V, MIM# 614284
Additional findings_Paediatric v0.152 COL9A2 Zornitza Stark Classified gene: COL9A2 as Green List (high evidence)
Additional findings_Paediatric v0.152 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.151 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Additional findings_Paediatric v0.151 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.151 COL9A1 Zornitza Stark Phenotypes for gene: COL9A1 were changed from Stickler syndrome to Stickler syndrome, type IV, MIM#614134
Additional findings_Paediatric v0.150 COL9A1 Zornitza Stark Classified gene: COL9A1 as Green List (high evidence)
Additional findings_Paediatric v0.150 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.149 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Additional findings_Paediatric v0.149 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.149 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Hirschsprung disease; Waardenburg syndrome to Waardenburg syndrome
Additional findings_Paediatric v0.148 EDN3 Zornitza Stark Mode of inheritance for gene: EDN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.147 EDN3 Zornitza Stark Classified gene: EDN3 as Green List (high evidence)
Additional findings_Paediatric v0.147 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Hearing loss to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900
Additional findings_Paediatric v0.145 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Green List (high evidence)
Additional findings_Paediatric v0.145 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.144 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Additional findings_Paediatric v0.144 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.144 CCDC50 Zornitza Stark Phenotypes for gene: CCDC50 were changed from Hearing loss to childhood onset deafness, progressive
Additional findings_Paediatric v0.143 CCDC50 Zornitza Stark Mode of inheritance for gene: CCDC50 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.142 CCDC50 Zornitza Stark Classified gene: CCDC50 as Green List (high evidence)
Additional findings_Paediatric v0.142 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.141 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Additional findings_Paediatric v0.141 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.141 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Additional findings_Paediatric v0.141 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.5412 RORB Zornitza Stark Marked gene: RORB as ready
Mendeliome v0.5412 RORB Zornitza Stark Gene: rorb has been classified as Green List (High Evidence).
Mendeliome v0.5412 RORB Zornitza Stark Phenotypes for gene: RORB were changed from to {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD; Genetic generalized epilepsy (GGE); Photosensitive generalized and occipital epilepsy
Mendeliome v0.5411 RORB Zornitza Stark Publications for gene: RORB were set to
Mendeliome v0.5410 RORB Zornitza Stark Mode of inheritance for gene: RORB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5409 RORB Zornitza Stark reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27352968, 32162308; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD, Genetic generalized epilepsy (GGE), Photosensitive generalized and occipital epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.909 RORB Zornitza Stark Marked gene: RORB as ready
Genetic Epilepsy v0.909 RORB Zornitza Stark Gene: rorb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.909 RORB Zornitza Stark Phenotypes for gene: RORB were changed from to {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD; Genetic generalized epilepsy (GGE); Photosensitive generalized and occipital epilepsy
Genetic Epilepsy v0.908 RORB Zornitza Stark Publications for gene: RORB were set to
Genetic Epilepsy v0.907 RORB Zornitza Stark Mode of inheritance for gene: RORB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5409 MYL9 Zornitza Stark Marked gene: MYL9 as ready
Mendeliome v0.5409 MYL9 Zornitza Stark Gene: myl9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5409 MYL9 Zornitza Stark Classified gene: MYL9 as Amber List (moderate evidence)
Mendeliome v0.5409 MYL9 Zornitza Stark Gene: myl9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5408 MYL9 Zornitza Stark gene: MYL9 was added
gene: MYL9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL9 were set to 29453416; 33031641
Phenotypes for gene: MYL9 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
Review for gene: MYL9 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Literature
Gastrointestinal neuromuscular disease v0.32 MYL9 Zornitza Stark Publications for gene: MYL9 were set to 29453416
Gastrointestinal neuromuscular disease v0.31 MYL9 Zornitza Stark Classified gene: MYL9 as Amber List (moderate evidence)
Gastrointestinal neuromuscular disease v0.31 MYL9 Zornitza Stark Gene: myl9 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.30 MYL9 Zornitza Stark reviewed gene: MYL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.30 MYLK Zornitza Stark Marked gene: MYLK as ready
Gastrointestinal neuromuscular disease v0.30 MYLK Zornitza Stark Gene: mylk has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disease v0.30 MYLK Zornitza Stark Publications for gene: MYLK were set to
Gastrointestinal neuromuscular disease v0.29 MYLK Zornitza Stark Classified gene: MYLK as Amber List (moderate evidence)
Gastrointestinal neuromuscular disease v0.29 MYLK Zornitza Stark Gene: mylk has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.48 CRTAP Paul De Fazio reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.5407 CRTAP Paul De Fazio reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3199 USP9X Paul De Fazio reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.5407 USP9X Paul De Fazio reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Congenital Disorders of Glycosylation v0.185 ALG6 Melanie Marty reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.185 MOGS Sarah Donoghue reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30587846, PMID: 31925597,; Phenotypes: hypotonia, global developmental delay, feeding problems, seizures, hypogammaglobulinaemia, variable problems with cardiac, dysmorpholology overlapping fingers, short palpebral fissures, micrognathia, can have upsweeping hair at front. MRI may be normal, but can have generalised atrophy. Transferrin isoforms may be normal - look at urine Gl4 (tetrasaccharide) increased in cases; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.185 NGLY1 Sarah Donoghue reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29550355; Phenotypes: alacrima, movement disorder, microcephaly, abnormal LFT's; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.140 GATA3 Lilian Downie gene: GATA3 was added
gene: GATA3 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Review for gene: GATA3 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.140 FOXI1 Lilian Downie gene: FOXI1 was added
gene: FOXI1 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis
Review for gene: FOXI1 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.140 EPS8L2 Lilian Downie gene: EPS8L2 was added
gene: EPS8L2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637
Review for gene: EPS8L2 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.140 EPS8 Lilian Downie gene: EPS8 was added
gene: EPS8 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPS8 were set to deafness MIM#600205
Review for gene: EPS8 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.140 EDNRB Lilian Downie reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.140 COL9A2 Lilian Downie reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.140 COL9A1 Lilian Downie reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.140 EDN3 Lilian Downie reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.140 DIAPH1 Lilian Downie reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.140 CCDC50 Lilian Downie reviewed gene: CCDC50: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: childhood onset deafness, progressive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.140 DMXL2 Lilian Downie gene: DMXL2 was added
gene: DMXL2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663
Review for gene: DMXL2 was set to GREEN
Added comment: EE and deafness
Sources: Expert list
Genetic Epilepsy v0.906 RORB Kristin Rigbye reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27352968, 32162308; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD, Genetic generalized epilepsy (GGE), Photosensitive generalized and occipital epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.28 MYLK Ain Roesley reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28602422; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5407 M1AP Zornitza Stark Phenotypes for gene: M1AP were changed from non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility to Spermatogenic failure 48, MIM# 619108; non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility
Mendeliome v0.5406 M1AP Zornitza Stark reviewed gene: M1AP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 48, MIM# 619108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.92 NEMF Zornitza Stark Phenotypes for gene: NEMF were changed from Intellectual disability; neuropathy to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099; Intellectual disability; neuropathy
Hereditary Neuropathy v0.91 NEMF Zornitza Stark edited their review of gene: NEMF: Changed phenotypes: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099, Intellectual disability, neuropathy
Intellectual disability syndromic and non-syndromic v0.3199 NEMF Zornitza Stark Phenotypes for gene: NEMF were changed from Intellectual disability; neuropathy to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099; Intellectual disability; neuropathy
Intellectual disability syndromic and non-syndromic v0.3198 NEMF Zornitza Stark edited their review of gene: NEMF: Changed phenotypes: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099, Intellectual disability, neuropathy
Mendeliome v0.5406 NEMF Zornitza Stark Phenotypes for gene: NEMF were changed from Intellectual disability; neuropathy to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099; Intellectual disability; neuropathy
Mendeliome v0.5405 NEMF Zornitza Stark edited their review of gene: NEMF: Changed phenotypes: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099, Intellectual disability, neuropathy
Mendeliome v0.5405 PHYKPL Zornitza Stark Marked gene: PHYKPL as ready
Mendeliome v0.5405 PHYKPL Zornitza Stark Gene: phykpl has been classified as Red List (Low Evidence).
Mendeliome v0.5405 PHYKPL Zornitza Stark Phenotypes for gene: PHYKPL were changed from to [?Phosphohydroxylysinuria] 615011
Mendeliome v0.5404 PHYKPL Zornitza Stark Publications for gene: PHYKPL were set to
Mendeliome v0.5403 PHYKPL Zornitza Stark Mode of inheritance for gene: PHYKPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5402 PHYKPL Zornitza Stark Classified gene: PHYKPL as Red List (low evidence)
Mendeliome v0.5402 PHYKPL Zornitza Stark Gene: phykpl has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.48 EDA Sarah Righetti reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5401 MTCL1 Bryony Thompson Classified gene: MTCL1 as Green List (high evidence)
Mendeliome v0.5401 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Green List (High Evidence).
Mendeliome v0.5400 MTCL1 Bryony Thompson edited their review of gene: MTCL1: Added comment: A new report of another case with a homozygous loss of function variant and a similar phenotype to the previously reported early onset homozygous Polish case (2 independent cases), and the supporting null mouse model.; Changed rating: GREEN; Changed publications: 30548255, 28283581, 32961396; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.266 MTCL1 Bryony Thompson Classified gene: MTCL1 as Green List (high evidence)
Ataxia v0.266 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Green List (High Evidence).
Ataxia v0.265 MTCL1 Bryony Thompson edited their review of gene: MTCL1: Added comment: A new report of another case with a homozygous loss of function variant and a similar phenotype to the previously reported early onset homozygous Polish case (2 independent cases), and the supporting null mouse model.; Changed rating: GREEN; Changed publications: 30548255, 28283581, 32961396; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5400 PHYKPL Elena Savva reviewed gene: PHYKPL: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23242558; Phenotypes: [?Phosphohydroxylysinuria] 615011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5400 POLE Zornitza Stark Marked gene: POLE as ready
Mendeliome v0.5400 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Mendeliome v0.5400 POLE Zornitza Stark Phenotypes for gene: POLE were changed from to FILS syndrome, 615139; IMAGE-I syndrome, 618336; {Colorectal cancer, susceptibility to, 12}, 615083
Mendeliome v0.5399 POLE Zornitza Stark Publications for gene: POLE were set to
Mendeliome v0.5398 POLE Zornitza Stark Mode of pathogenicity for gene: POLE was changed from to Other
Mendeliome v0.5397 POLE Zornitza Stark Mode of inheritance for gene: POLE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5396 POLE Zornitza Stark Tag deep intronic tag was added to gene: POLE.
Mendeliome v0.5396 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Mendeliome v0.5396 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Mendeliome v0.5396 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, 300804; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200; Retinitis pigmentosa 23, 300424
Mendeliome v0.5395 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Mendeliome v0.5394 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to Other
Additional findings_Paediatric v0.140 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Additional findings_Paediatric v0.140 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.140 COL9A3 Zornitza Stark Classified gene: COL9A3 as Green List (high evidence)
Additional findings_Paediatric v0.140 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.139 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Additional findings_Paediatric v0.139 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.139 CEP78 Zornitza Stark Classified gene: CEP78 as Green List (high evidence)
Additional findings_Paediatric v0.139 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.138 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Additional findings_Paediatric v0.138 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.138 CDC14A Zornitza Stark Classified gene: CDC14A as Green List (high evidence)
Additional findings_Paediatric v0.138 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.137 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Additional findings_Paediatric v0.137 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.137 CABP2 Zornitza Stark Classified gene: CABP2 as Green List (high evidence)
Additional findings_Paediatric v0.137 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.136 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Additional findings_Paediatric v0.136 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.136 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Green List (high evidence)
Additional findings_Paediatric v0.136 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.135 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Additional findings_Paediatric v0.135 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.135 ADGRV1 Zornitza Stark Classified gene: ADGRV1 as Green List (high evidence)
Additional findings_Paediatric v0.135 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Mendeliome v0.5393 POLE Elena Savva reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30503519, 23230001; Phenotypes: FILS syndrome, 615139, IMAGE-I syndrome, 618336, {Colorectal cancer, susceptibility to, 12}, 615083; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5393 OFD1 Elena Savva reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31373179, 23033313, 16783569; Phenotypes: ?Retinitis pigmentosa 23, 300424, Joubert syndrome 10, 300804, Simpson-Golabi-Behmel syndrome, type 2, 300209, Orofaciodigital syndrome I, 311200; Mode of inheritance: Other
Additional findings_Paediatric v0.134 COL9A3 Lilian Downie gene: COL9A3 was added
gene: COL9A3 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A3 were set to Stickler syndrome
Review for gene: COL9A3 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.134 CEP78 Lilian Downie gene: CEP78 was added
gene: CEP78 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss
Review for gene: CEP78 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.134 CDC14A Lilian Downie gene: CDC14A was added
gene: CDC14A was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Review for gene: CDC14A was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.134 CABP2 Lilian Downie gene: CABP2 was added
gene: CABP2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899
Additional findings_Paediatric v0.134 ATP2B2 Lilian Downie gene: ATP2B2 was added
gene: ATP2B2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP2B2 were set to Deafness, childhood onset
Review for gene: ATP2B2 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.134 ADGRV1 Lilian Downie gene: ADGRV1 was added
gene: ADGRV1 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C
Added comment: Added from deafness gene list
Sources: Expert list
Hereditary Neuropathy v0.91 NARS Zornitza Stark Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Hereditary Neuropathy v0.90 NARS Zornitza Stark edited their review of gene: NARS: Changed phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy
Intellectual disability syndromic and non-syndromic v0.3198 NARS Zornitza Stark Phenotypes for gene: NARS were changed from Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Intellectual disability syndromic and non-syndromic v0.3197 NARS Zornitza Stark Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Intellectual disability syndromic and non-syndromic v0.3196 NARS Zornitza Stark reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.906 NARS Zornitza Stark Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Genetic Epilepsy v0.905 NARS Zornitza Stark reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5393 NARS Zornitza Stark Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Mendeliome v0.5392 NARS Zornitza Stark Tag new gene name tag was added to gene: NARS.
Mendeliome v0.5392 NARS Zornitza Stark edited their review of gene: NARS: Changed phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy
Lipodystrophy_Lipoatrophy v0.14 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Lipodystrophy_Lipoatrophy v0.14 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.14 OTULIN Zornitza Stark Classified gene: OTULIN as Green List (high evidence)
Lipodystrophy_Lipoatrophy v0.14 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.13 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Lipodystrophy_Lipoatrophy. Sources: Expert list
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTULIN were set to 27523608; 27559085
Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Review for gene: OTULIN was set to GREEN
Added comment: Autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection.

At least 3 unrelated families reported.
Sources: Expert list
Lipodystrophy_Lipoatrophy v0.12 PSMB4 Zornitza Stark Marked gene: PSMB4 as ready
Lipodystrophy_Lipoatrophy v0.12 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.12 PSMB4 Zornitza Stark Classified gene: PSMB4 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.12 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.11 PSMB4 Zornitza Stark gene: PSMB4 was added
gene: PSMB4 was added to Lipodystrophy_Lipoatrophy. Sources: Expert list
Mode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB4 were set to 26524591
Phenotypes for gene: PSMB4 were set to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Review for gene: PSMB4 was set to AMBER
Added comment: Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anaemia, thrombocytopaenia, recurrent infections, autoantibodies, and hypergammaglobulinaemia. Some may have intracranial calcifications.

One individual with bi-allelic variants, and two others with mono-allelic variants in PSMB4 as well as variants in PSMB9 or PSMB8, digenic model proposed.
Sources: Expert list
Cataract v0.243 ANAPC1 Zornitza Stark Tag deep intronic tag was added to gene: ANAPC1.
Cataract v0.243 ANAPC1 Zornitza Stark reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund Thomson syndrome type 1, OMIM 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5392 ANAPC1 Zornitza Stark Tag deep intronic tag was added to gene: ANAPC1.
Mendeliome v0.5392 ANAPC1 Zornitza Stark reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 1 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5392 DZIP1 Zornitza Stark Phenotypes for gene: DZIP1 were changed from Mitral valve prolapse, MIM#610840 to Mitral valve prolapse, MIM#610840; Spermatogenic failure 47, MIM# 619102
Mendeliome v0.5391 DZIP1 Zornitza Stark Publications for gene: DZIP1 were set to 31118289
Mendeliome v0.5390 DZIP1 Zornitza Stark Mode of inheritance for gene: DZIP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5389 DZIP1 Zornitza Stark changed review comment from: One large 4-generation family reported, where missense variant segregated with disease. Two additional individuals identified from a cohort. All variants present at low frequency in population databases. Mouse model recapitulated phenotype.
Sources: Literature; to: Association with MVP: One large 4-generation family reported, where missense variant segregated with disease. Two additional individuals identified from a cohort. All variants present at low frequency in population databases. Mouse model recapitulated phenotype.
Sources: Literature
Mendeliome v0.5389 DZIP1 Zornitza Stark edited their review of gene: DZIP1: Added comment: Two individuals reported in PMID 32051257 with bi-allelic variants and spermatogenic failure.; Changed publications: 31118289, 32051257; Changed phenotypes: Mitral valve prolapse, MIM#610840, Spermatogenic failure 47, MIM# 619102; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5389 DZIP1 Zornitza Stark Marked gene: DZIP1 as ready
Mendeliome v0.5389 DZIP1 Zornitza Stark Gene: dzip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5389 DZIP1 Zornitza Stark Phenotypes for gene: DZIP1 were changed from Mitral valve prolapse to Mitral valve prolapse, MIM#610840
Mendeliome v0.5388 DZIP1 Zornitza Stark Classified gene: DZIP1 as Amber List (moderate evidence)
Mendeliome v0.5388 DZIP1 Zornitza Stark Gene: dzip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5387 DZIP1 Zornitza Stark edited their review of gene: DZIP1: Changed phenotypes: Mitral valve prolapse, MIM#610840
Mendeliome v0.5387 DZIP1 Zornitza Stark gene: DZIP1 was added
gene: DZIP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DZIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DZIP1 were set to 31118289
Phenotypes for gene: DZIP1 were set to Mitral valve prolapse
Review for gene: DZIP1 was set to AMBER
Added comment: One large 4-generation family reported, where missense variant segregated with disease. Two additional individuals identified from a cohort. All variants present at low frequency in population databases. Mouse model recapitulated phenotype.
Sources: Literature
Bone Marrow Failure v0.171 ADH5 Zornitza Stark Marked gene: ADH5 as ready
Bone Marrow Failure v0.171 ADH5 Zornitza Stark Gene: adh5 has been classified as Green List (High Evidence).
Mendeliome v0.5386 ADH5 Zornitza Stark Marked gene: ADH5 as ready
Mendeliome v0.5386 ADH5 Zornitza Stark Gene: adh5 has been classified as Green List (High Evidence).
Mendeliome v0.5386 ADH5 Zornitza Stark Classified gene: ADH5 as Green List (high evidence)
Mendeliome v0.5386 ADH5 Zornitza Stark Gene: adh5 has been classified as Green List (High Evidence).
Mendeliome v0.5385 ADH5 Zornitza Stark gene: ADH5 was added
gene: ADH5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADH5 were set to 33147438
Phenotypes for gene: ADH5 were set to Aplastic anaemia; myelodysplasia; short stature
Review for gene: ADH5 was set to GREEN
Added comment: 7 individuals reported with bi-allelic variants in this gene and a Fanconi syndrome-like phenotype. All had aplastic anaemia, 4 developed a myelodysplastic syndrome, and one developed AML. Short stature and abnormal skin pigmentation were additional features.

Note, all also had the ALDH2*2 allele, which is common in East Asian populations, and may be contributory.

Extensive experimental data.
Sources: Literature
Bone Marrow Failure v0.171 ADH5 Zornitza Stark Classified gene: ADH5 as Green List (high evidence)
Bone Marrow Failure v0.171 ADH5 Zornitza Stark Gene: adh5 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.170 ADH5 Zornitza Stark gene: ADH5 was added
gene: ADH5 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: ADH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADH5 were set to 33147438
Phenotypes for gene: ADH5 were set to Aplastic anaemia; myelodysplasia; short stature
Review for gene: ADH5 was set to GREEN
Added comment: 7 individuals reported with bi-allelic variants in this gene and a Fanconi syndrome-like phenotype. All had aplastic anaemia, 4 developed a myelodysplastic syndrome, and one developed AML. Short stature and abnormal skin pigmentation were additional features.

Note, all also had the ALDH2*2 allele, which is common in East Asian populations, and may be contributory.

Extensive experimental data.
Sources: Literature
Malignant Hyperthermia Susceptibility v1.0 Bryony Thompson promoted panel to version 1.0
Vascular Malformations_Somatic v1.0 Bryony Thompson promoted panel to version 1.0
Vascular Malformations_Somatic v0.16 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy v0.90 RFC1 Bryony Thompson Classified gene: RFC1 as No list
Hereditary Neuropathy v0.90 RFC1 Bryony Thompson Added comment: Comment on list classification: STR is the only reported cause of condition. It is present under the STRs in this panel.
Hereditary Neuropathy v0.90 RFC1 Bryony Thompson Gene: rfc1 has been removed from the panel.
Hereditary Neuropathy v0.89 CANVAS Bryony Thompson Classified STR: CANVAS as Green List (high evidence)
Hereditary Neuropathy v0.89 CANVAS Bryony Thompson Str: canvas has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.88 CANVAS Bryony Thompson STR: CANVAS was added
STR: CANVAS was added to Hereditary Neuropathy - complex. Sources: Expert list
STR tags were added to STR: CANVAS.
Mode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS were set to 30926972
Phenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Review for STR: CANVAS was set to GREEN
STR: CANVAS was marked as clinically relevant
STR: CANVAS was marked as current diagnostic
Added comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease.
Sources: Expert list
Incidentalome v0.51 SNCA Zornitza Stark Marked gene: SNCA as ready
Incidentalome v0.51 SNCA Zornitza Stark Gene: snca has been classified as Green List (High Evidence).
Incidentalome v0.51 SNCA Zornitza Stark Phenotypes for gene: SNCA were changed from to Dementia, Lewy body (MIM#127750); Parkinson disease 1 (MIM#168601); Parkinson disease 4 (MIM#605543)
Incidentalome v0.50 SNCA Zornitza Stark Publications for gene: SNCA were set to
Incidentalome v0.49 SNCA Zornitza Stark Mode of inheritance for gene: SNCA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Incidentalome v0.48 SNCA Zornitza Stark Tag SV/CNV tag was added to gene: SNCA.
Incidentalome v0.48 SNCA Zornitza Stark reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32849182, 26858591, 32740728; Phenotypes: Dementia, Lewy body (MIM#127750), Parkinson disease 1 (MIM#168601), Parkinson disease 4 (MIM#605543); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.130 SNCA Zornitza Stark Marked gene: SNCA as ready
Early-onset Dementia v0.130 SNCA Zornitza Stark Gene: snca has been classified as Green List (High Evidence).
Early-onset Dementia v0.130 SNCA Zornitza Stark Phenotypes for gene: SNCA were changed from to Dementia, Lewy body (MIM#127750); Parkinson disease 1 (MIM#168601); Parkinson disease 4 (MIM#605543)
Early-onset Dementia v0.129 SNCA Zornitza Stark Publications for gene: SNCA were set to
Early-onset Dementia v0.128 SNCA Zornitza Stark Mode of inheritance for gene: SNCA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.127 SNCA Zornitza Stark reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32849182, 26858591, 32740728; Phenotypes: Dementia, Lewy body (MIM#127750), Parkinson disease 1 (MIM#168601), Parkinson disease 4 (MIM#605543); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.92 SNCA Zornitza Stark Marked gene: SNCA as ready
Early-onset Parkinson disease v0.92 SNCA Zornitza Stark Gene: snca has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.92 SNCA Zornitza Stark Phenotypes for gene: SNCA were changed from to Dementia, Lewy body (MIM#127750); Parkinson disease 1 (MIM#168601); Parkinson disease 4 (MIM#605543)
Early-onset Parkinson disease v0.91 SNCA Zornitza Stark Publications for gene: SNCA were set to
Early-onset Parkinson disease v0.90 SNCA Zornitza Stark Mode of inheritance for gene: SNCA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.89 SNCA Zornitza Stark Tag SV/CNV tag was added to gene: SNCA.
Early-onset Parkinson disease v0.89 SNCA Ain Roesley reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32849182, 26858591, 32740728; Phenotypes: Dementia, Lewy body (MIM#127750), Parkinson disease 1 (MIM#168601), Parkinson disease 4 (MIM#605543); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.148 NPHS2 Zornitza Stark Marked gene: NPHS2 as ready
Proteinuria v0.148 NPHS2 Zornitza Stark Gene: nphs2 has been classified as Green List (High Evidence).
Proteinuria v0.148 NPHS2 Zornitza Stark Phenotypes for gene: NPHS2 were changed from to Nephrotic syndrome, type 2 (MIM#600995), AR
Proteinuria v0.147 NPHS2 Zornitza Stark Publications for gene: NPHS2 were set to
Proteinuria v0.146 NPHS2 Zornitza Stark Mode of inheritance for gene: NPHS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.145 NPHS2 Zornitza Stark reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 30260545, 24509478; Phenotypes: Nephrotic syndrome, type 2 (MIM#600995), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5384 NPHS2 Zornitza Stark Marked gene: NPHS2 as ready
Mendeliome v0.5384 NPHS2 Zornitza Stark Gene: nphs2 has been classified as Green List (High Evidence).
Mendeliome v0.5384 NPHS2 Zornitza Stark Phenotypes for gene: NPHS2 were changed from to Nephrotic syndrome, type 2 (MIM#600995), AR
Mendeliome v0.5383 NPHS2 Zornitza Stark Publications for gene: NPHS2 were set to
Mendeliome v0.5382 NPHS2 Zornitza Stark Mode of inheritance for gene: NPHS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5381 NPHS2 Chern Lim reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 30260545, 24509478; Phenotypes: Nephrotic syndrome, type 2 (MIM#600995), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital ophthalmoplegia v0.66 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Congenital ophthalmoplegia v0.66 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.66 RYR1 Zornitza Stark Classified gene: RYR1 as Green List (high evidence)
Congenital ophthalmoplegia v0.66 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.65 POLG Zornitza Stark Marked gene: POLG as ready
Congenital ophthalmoplegia v0.65 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.65 POLG Zornitza Stark Classified gene: POLG as Green List (high evidence)
Congenital ophthalmoplegia v0.65 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.64 MYH2 Zornitza Stark Marked gene: MYH2 as ready
Congenital ophthalmoplegia v0.64 MYH2 Zornitza Stark Gene: myh2 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.64 MYH2 Zornitza Stark Phenotypes for gene: MYH2 were changed from to Proximal myopathy and ophthalmoplegia, MIM# 605637
Congenital ophthalmoplegia v0.63 MYH2 Zornitza Stark Classified gene: MYH2 as Green List (high evidence)
Congenital ophthalmoplegia v0.63 MYH2 Zornitza Stark Gene: myh2 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.62 MYH2 Zornitza Stark reviewed gene: MYH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia, MIM# 605637; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.62 TYMP Zornitza Stark reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.62 TYMP Zornitza Stark Marked gene: TYMP as ready
Congenital ophthalmoplegia v0.62 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.62 TYMP Zornitza Stark Classified gene: TYMP as Green List (high evidence)
Congenital ophthalmoplegia v0.62 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.61 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Congenital ophthalmoplegia v0.61 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.61 NPC1 Zornitza Stark Classified gene: NPC1 as Green List (high evidence)
Congenital ophthalmoplegia v0.61 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.60 TWNK Zornitza Stark Marked gene: TWNK as ready
Congenital ophthalmoplegia v0.60 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.60 TWNK Zornitza Stark Classified gene: TWNK as Green List (high evidence)
Congenital ophthalmoplegia v0.60 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.59 TWNK Shannon LeBlanc gene: TWNK was added
gene: TWNK was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to PMID 17921179; 32234020
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Review for gene: TWNK was set to GREEN
Added comment: Mitochondrial DNA depletion syndrome-7: biallelic, severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Infantile onset

PMID: 32234020: Fig 1 shows the variant distribution for various phenotypes
Sources: Literature
Congenital ophthalmoplegia v0.59 NPC1 Shannon LeBlanc gene: NPC1 was added
gene: NPC1 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C, 257220
Review for gene: NPC1 was set to GREEN
Added comment: Well established gene-disease association.

Vertical supranuclear gaze palsy is an early manifestation in childhood-onset type.
Sources: Literature
Congenital ophthalmoplegia v0.59 TYMP Shannon LeBlanc gene: TYMP was added
gene: TYMP was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to PMID: 21933806; 30775048
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
Added comment: Ophthalmoplegia is a common feature.

age of onset range 5 months to 35 years); however, the majority of patients reported the first symptoms before the age of 12 years.

Garone 2011: 92 patients with biallelic variants
Sources: Literature
Congenital ophthalmoplegia v0.59 MYH2 Shannon LeBlanc gene: MYH2 was added
gene: MYH2 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH2 were set to PMID 24193343; 32578970; 11114175; 23489661
Added comment: childhood consent ophthalmoplegia and progressive proximal limb weakness. Either slowly progressive or non-progressive.

> 10 families reported with balletic variants
monoallelic variants: two missense variants reported
Sources: Literature
Congenital ophthalmoplegia v0.59 POLG Shannon LeBlanc gene: POLG was added
gene: POLG was added to Congenital ophthalmoplegia. Sources: Literature
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) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Review for gene: POLG was set to GREEN
Added comment: Well established gene-disease associaition. Variable age of onset of ophthalmoplegia, including infancy and early childhood.
Sources: Literature
Congenital ophthalmoplegia v0.59 RYR1 Shannon LeBlanc gene: RYR1 was added
gene: RYR1 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia 255320
Review for gene: RYR1 was set to GREEN
Added comment: ophthalmoplegia is a common features. Also presents with congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy,
Sources: Literature
Congenital ophthalmoplegia v0.59 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Congenital ophthalmoplegia v0.59 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.59 CHRNE Zornitza Stark Classified gene: CHRNE as Green List (high evidence)
Congenital ophthalmoplegia v0.59 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.58 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, MIM# 616324
Review for gene: CHRNE was set to GREEN
Added comment: Ophthalmoplegia is a feature.
Sources: Expert list
Congenital ophthalmoplegia v0.57 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Congenital ophthalmoplegia v0.57 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.57 CHRNB1 Zornitza Stark Classified gene: CHRNB1 as Green List (high evidence)
Congenital ophthalmoplegia v0.57 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.56 CHRNB1 Zornitza Stark gene: CHRNB1 was added
gene: CHRNB1 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2A, slow-channel, MIM# 616313
Review for gene: CHRNB1 was set to GREEN
Added comment: Ophthalmoplegia is a feature.
Sources: Expert list
Congenital ophthalmoplegia v0.55 MFF Zornitza Stark Marked gene: MFF as ready
Congenital ophthalmoplegia v0.55 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.55 MFF Zornitza Stark Classified gene: MFF as Green List (high evidence)
Congenital ophthalmoplegia v0.55 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.54 MFF Zornitza Stark gene: MFF was added
gene: MFF was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFF were set to 26783368
Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Review for gene: MFF was set to GREEN
Added comment: Ophthalmoplegia is a feature along with severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia.
Sources: Expert list
Congenital ophthalmoplegia v0.53 MUSK Zornitza Stark Marked gene: MUSK as ready
Congenital ophthalmoplegia v0.53 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.53 MUSK Zornitza Stark Classified gene: MUSK as Green List (high evidence)
Congenital ophthalmoplegia v0.53 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.52 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325
Review for gene: MUSK was set to GREEN
Added comment: Ophthalmoplegia is a feature.
Sources: Expert list
Congenital ophthalmoplegia v0.51 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Congenital ophthalmoplegia v0.51 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.51 NDUFV1 Zornitza Stark Classified gene: NDUFV1 as Green List (high evidence)
Congenital ophthalmoplegia v0.51 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.50 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, MIM# 618225
Review for gene: NDUFV1 was set to GREEN
Added comment: Ophthalmoplegia is a reported feature.
Sources: Expert list
Congenital ophthalmoplegia v0.49 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Congenital ophthalmoplegia v0.49 MTM1 Zornitza Stark Gene: mtm1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.49 MTM1 Zornitza Stark Classified gene: MTM1 as Green List (high evidence)
Congenital ophthalmoplegia v0.49 MTM1 Zornitza Stark Gene: mtm1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.48 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, MIM# 310400
Review for gene: MTM1 was set to GREEN
Added comment: External ophthalmoplegia is a prominent feature.
Sources: Expert list
Mendeliome v0.5381 LRIF1 Bryony Thompson changed review comment from: A single consanguineous case with a homozygous truncating variant. DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus.
Sources: Literature; to: A single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus.
Sources: Literature
Mendeliome v0.5381 LRIF1 Bryony Thompson Classified gene: LRIF1 as Amber List (moderate evidence)
Mendeliome v0.5381 LRIF1 Bryony Thompson Gene: lrif1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5380 LRIF1 Bryony Thompson gene: LRIF1 was added
gene: LRIF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRIF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRIF1 were set to 32467133
Phenotypes for gene: LRIF1 were set to Facioscapulohumeral muscular dystrophy
Review for gene: LRIF1 was set to AMBER
Added comment: A single consanguineous case with a homozygous truncating variant. DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus.
Sources: Literature
Ciliary Dyskinesia v1.2 DNAH8 Zornitza Stark Phenotypes for gene: DNAH8 were changed from Asthenozoospermia; primary ciliary dyskinesia to Spermatogenic failure 46, MIM#619095; Asthenozoospermia; primary ciliary dyskinesia
Mendeliome v0.5379 DNAH8 Zornitza Stark Phenotypes for gene: DNAH8 were changed from Asthenozoospermia; primary ciliary dyskinesia to Spermatogenic failure 46, MIM#619095; Asthenozoospermia; primary ciliary dyskinesia
Mendeliome v0.5378 DNAH8 Zornitza Stark edited their review of gene: DNAH8: Changed phenotypes: Spermatogenic failure 46, MIM#619095, Asthenozoospermia, primary ciliary dyskinesia
Anophthalmia_Microphthalmia_Coloboma v0.69 C16orf62 Zornitza Stark Tag new gene name tag was added to gene: C16orf62.
Congenital diaphragmatic hernia v0.32 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Congenital diaphragmatic hernia v0.32 TRRAP Zornitza Stark Gene: trrap has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.32 TRRAP Zornitza Stark gene: TRRAP was added
gene: TRRAP was added to Congenital diaphragmatic hernia. Sources: Expert list
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 RED
Added comment: Developmental delay with or without dysmorphic facies and autism (DEDDFA) is a complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Some patients may be severely affected with no speech and inability to walk, whereas others may be able to attend special schools or have normal intellectual function associated with autism spectrum disorder and mild speech delay. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups. Patients with TRRAP mutations affecting residues 1031-1159 have a more severe disorder, often with multisystem involvement, including renal, cardiac, and genitourinary systems, as well as structural brain abnormalities. Patients with mutations outside of that region tend to have a less severe phenotype with a higher incidence of autism and usually no systemic involvement. Patients in both groups usually have somewhat similar dysmorphic facial features, such as upslanting palpebral fissures, hypertelorism, low-set ears, and broad or depressed nasal bridge, although these features are highly variable.

One of 13 individuals had CDH in PMID 30827496.
Sources: Expert list
Congenital diaphragmatic hernia v0.31 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Congenital diaphragmatic hernia v0.31 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.31 EFEMP2 Zornitza Stark Classified gene: EFEMP2 as Green List (high evidence)
Congenital diaphragmatic hernia v0.31 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.30 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 30140196; 21563328
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, MIM# 614437
Review for gene: EFEMP2 was set to GREEN
Added comment: Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels.

Diaphragmatic hypoplasia and hernia are features in 25-90%.
Sources: Expert list
Congenital diaphragmatic hernia v0.29 PORCN Zornitza Stark Marked gene: PORCN as ready
Congenital diaphragmatic hernia v0.29 PORCN Zornitza Stark Added comment: Comment when marking as ready: XLD.
Congenital diaphragmatic hernia v0.29 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.29 PORCN Zornitza Stark Phenotypes for gene: PORCN were changed from to Focal dermal hypoplasia, MIM# 305600
Congenital diaphragmatic hernia v0.28 PORCN Zornitza Stark Publications for gene: PORCN were set to
Congenital diaphragmatic hernia v0.27 PORCN Zornitza Stark Mode of inheritance for gene: PORCN was changed from Unknown to Other
Congenital diaphragmatic hernia v0.26 PORCN Zornitza Stark reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25026905; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: Other
Mendeliome v0.5378 MYRF Zornitza Stark Phenotypes for gene: MYRF were changed from Nanophthalmos; High hyperopia to Nanophthalmos and high hyperopia; Cardiac-urogenital syndrome, MIM# 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, MIM# 618113
Mendeliome v0.5377 MYRF Zornitza Stark Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225
Mendeliome v0.5376 MYRF Zornitza Stark edited their review of gene: MYRF: Added comment: Association with Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 618113: limited evidence, two multiplex families with same missense variant (likely founder effect) reported (p.Gln403Arg); Changed publications: 31048900, 31172260, 31266062, 31700225, 29446546, 29446546, 30532227, 31069960, 29265453; Changed phenotypes: Nanophthalmos and high hyperopia, Cardiac-urogenital syndrome, MIM# 618280, Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, MIM# 618113
Mendeliome v0.5376 MYRF Zornitza Stark changed review comment from: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. More than 10 unrelated individuals reported.; to: Cardiac-urogenital syndrome MIM# 618280 is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. More than 10 unrelated individuals reported.
Mendeliome v0.5376 MYRF Zornitza Stark edited their review of gene: MYRF: Added comment: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. More than 10 unrelated individuals reported.; Changed publications: 31048900, 31172260, 31266062, 31700225, 29446546, 29446546, 30532227, 31069960; Changed phenotypes: Nanophthalmos and high hyperopia, Cardiac-urogenital syndrome, MIM# 618280
Mendeliome v0.5376 MYRF Zornitza Stark changed review comment from: Multiple affected individuals reported.
Sources: Expert list; to: Multiple affected individuals reported with nanophthalmos and high hyperopia and C-terminal frameshift variants, with or without dextrocardia or congenital diaphragmatic hernia.
Sources: Expert list
Congenital diaphragmatic hernia v0.26 MYRF Zornitza Stark Marked gene: MYRF as ready
Congenital diaphragmatic hernia v0.26 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.26 MYRF Zornitza Stark Classified gene: MYRF as Green List (high evidence)
Congenital diaphragmatic hernia v0.26 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.25 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to 29446546; 29446546; 30532227; 31069960
Phenotypes for gene: MYRF were set to Cardiac-urogenital syndrome, MIM# 618280
Review for gene: MYRF was set to GREEN
Added comment: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.

More than 10 unrelated individuals reported.
Sources: Expert list
Congenital diaphragmatic hernia v0.24 NR2F2 Zornitza Stark Marked gene: NR2F2 as ready
Congenital diaphragmatic hernia v0.24 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.24 NR2F2 Zornitza Stark Classified gene: NR2F2 as Green List (high evidence)
Congenital diaphragmatic hernia v0.24 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.23 NR2F2 Zornitza Stark gene: NR2F2 was added
gene: NR2F2 was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR2F2 were set to 29570242; 29966037; 27363585
Phenotypes for gene: NR2F2 were set to Congenital heart defects, multiple types, 4, MIM# 615779
Review for gene: NR2F2 was set to GREEN
Added comment: The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported. Some exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastro-oesophageal reflux.

CDH reported in more than 3 unrelated individuals.
Sources: Expert list
Congenital diaphragmatic hernia v0.22 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Congenital diaphragmatic hernia v0.22 GATA6 Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.22 GATA6 Zornitza Stark Classified gene: GATA6 as Green List (high evidence)
Congenital diaphragmatic hernia v0.22 GATA6 Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.21 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA6 were set to 31301121
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, MIM# 600001
Review for gene: GATA6 was set to GREEN
Added comment: Recent review of 78 published cases: most common phenotypes were structural cardiac and pancreatic abnormalities, with a penetrance of 87 and 60%, respectively. Other common malformations were gallbladder agenesis, congenital diaphragmatic hernia, and neurocognitive abnormalities, mostly developmental delay. Approximately half were inherited, variable expressivity.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3196 RLIM Zornitza Stark Marked gene: RLIM as ready
Intellectual disability syndromic and non-syndromic v0.3196 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3196 RLIM Zornitza Stark Phenotypes for gene: RLIM were changed from to Tonne-Kalscheuer syndrome, MIM# 300978
Intellectual disability syndromic and non-syndromic v0.3195 RLIM Zornitza Stark Publications for gene: RLIM were set to
Intellectual disability syndromic and non-syndromic v0.3194 RLIM Zornitza Stark Mode of inheritance for gene: RLIM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3193 RLIM Zornitza Stark reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29728705, 25735484, 25644381; Phenotypes: Tonne-Kalscheuer syndrome, MIM# 300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5376 RLIM Zornitza Stark Marked gene: RLIM as ready
Mendeliome v0.5376 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Mendeliome v0.5376 RLIM Zornitza Stark Phenotypes for gene: RLIM were changed from to Tonne-Kalscheuer syndrome, MIM# 300978
Mendeliome v0.5375 RLIM Zornitza Stark Publications for gene: RLIM were set to
Mendeliome v0.5374 RLIM Zornitza Stark Mode of inheritance for gene: RLIM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5373 RLIM Zornitza Stark reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29728705, 25735484, 25644381; Phenotypes: Tonne-Kalscheuer syndrome, MIM# 300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital diaphragmatic hernia v0.20 RLIM Zornitza Stark Marked gene: RLIM as ready
Congenital diaphragmatic hernia v0.20 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.20 RLIM Zornitza Stark Classified gene: RLIM as Green List (high evidence)
Congenital diaphragmatic hernia v0.20 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.19 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RLIM were set to 29728705; 25735484; 25644381
Phenotypes for gene: RLIM were set to Tonne-Kalscheuer syndrome, MIM# 300978
Review for gene: RLIM was set to GREEN
Added comment: Eight unrelated families and a zebrafish model.

Most individuals exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioural abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities
Sources: Expert list
Congenital diaphragmatic hernia v0.18 RARB Zornitza Stark Marked gene: RARB as ready
Congenital diaphragmatic hernia v0.18 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.18 RARB Zornitza Stark Classified gene: RARB as Green List (high evidence)
Congenital diaphragmatic hernia v0.18 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.17 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RARB were set to 24075189; 22686418
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, MIM# 615524
Review for gene: RARB was set to GREEN
Added comment: Both mono allelic and bi-allelic variants associated with bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia.
Sources: Expert list
Congenital diaphragmatic hernia v0.16 ZFPM2 Zornitza Stark Marked gene: ZFPM2 as ready
Congenital diaphragmatic hernia v0.16 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.16 ZFPM2 Zornitza Stark Classified gene: ZFPM2 as Green List (high evidence)
Congenital diaphragmatic hernia v0.16 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.15 ZFPM2 Zornitza Stark gene: ZFPM2 was added
gene: ZFPM2 was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFPM2 were set to 16103912; 17568391; 24702427
Phenotypes for gene: ZFPM2 were set to Diaphragmatic hernia 3, MIM# 610187
Review for gene: ZFPM2 was set to GREEN
Added comment: More than 5 unrelated families reported with variants in this gene and CDH. Note variants in this gene are also linked to CHD and sex reversal.
Sources: Expert list
Congenital diaphragmatic hernia v0.14 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Congenital diaphragmatic hernia v0.14 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.14 STRA6 Zornitza Stark Phenotypes for gene: STRA6 were changed from to Microphthalmia, syndromic 9, MIM# 601186
Congenital diaphragmatic hernia v0.13 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Congenital diaphragmatic hernia v0.12 STRA6 Zornitza Stark Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.11 STRA6 Zornitza Stark reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373900, 22686418]; Phenotypes: Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.46 ADSL Zornitza Stark Marked gene: ADSL as ready
Angelman Rett like syndromes v0.46 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.46 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency, MIM# 103050
Angelman Rett like syndromes v0.45 ADSL Zornitza Stark Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.44 ADSL Zornitza Stark reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenylosuccinase deficiency, MIM# 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.44 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Angelman Rett like syndromes v0.44 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.44 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Angelman Rett like syndromes v0.44 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.43 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Angelman Rett like syndromes. Sources: Expert Review
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31031012
Phenotypes for gene: ACTL6B were set to Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Ten individuals reported with de novo heterozygous variants and intellectual disability, ambulation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose). Nine of these ten unrelated individuals had the identical de novo c.1027G>A (p.Gly343Arg) variant.

Note bi-allelic variants cause a neurodevelopmental disorder characterised by epilepsy and spasticity.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.48 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31668703; 31692205
Phenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Review for gene: NTNG2 was set to GREEN
Added comment: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome, such as poor communication, stereotypic or repetitive behaviours, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.

More than 8 families reported.
Sources: Expert Review
Angelman Rett like syndromes v0.42 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Angelman Rett like syndromes v0.42 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.42 NTNG2 Zornitza Stark Classified gene: NTNG2 as Green List (high evidence)
Angelman Rett like syndromes v0.42 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.41 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31668703; 31692205
Phenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Review for gene: NTNG2 was set to GREEN
Added comment: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome, such as poor communication, stereotypic or repetitive behaviours, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.

More than 8 families reported.
Sources: Literature
Angelman Rett like syndromes v0.40 GRIN2B Zornitza Stark Marked gene: GRIN2B as ready
Angelman Rett like syndromes v0.40 GRIN2B Zornitza Stark Gene: grin2b has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.40 GRIN2B Zornitza Stark Classified gene: GRIN2B as Green List (high evidence)
Angelman Rett like syndromes v0.40 GRIN2B Zornitza Stark Gene: grin2b has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.39 GRIN2B Zornitza Stark gene: GRIN2B was added
gene: GRIN2B was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2B were set to 31409060; 28734458
Phenotypes for gene: GRIN2B were set to Mental retardation, autosomal dominant 6, MIM# 613970; Developmental and epileptic encephalopathy 27, MIM# 616139
Review for gene: GRIN2B was set to GREEN
Added comment: More than 3 individuals reported as part of Rett-like cohorts.
Sources: Expert list
Mendeliome v0.5373 GABBR2 Zornitza Stark commented on gene: GABBR2: At least 3 unrelated individuals reported with DEE 59, MIM# 617904. Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903 is an allelic disorder, which is less severe. The two may represent a spectrum.
Genetic Epilepsy v0.905 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Genetic Epilepsy v0.905 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.905 GABBR2 Zornitza Stark Phenotypes for gene: GABBR2 were changed from to Developmental and epileptic encephalopathy 59, MIM# 617904
Mendeliome v0.5373 GABBR2 Zornitza Stark edited their review of gene: GABBR2: Changed publications: 29100083, 28061363, 28135719, 28856709, 29369404, 29377213, 25262651, 28856709; Changed phenotypes: Neurodevelopmental disorder with poor language and loss of hand skills, 617903, Developmental and epileptic encephalopathy 59, MIM# 617904
Genetic Epilepsy v0.904 GABBR2 Zornitza Stark Publications for gene: GABBR2 were set to
Genetic Epilepsy v0.903 GABBR2 Zornitza Stark Mode of inheritance for gene: GABBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.902 GABBR2 Zornitza Stark reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 25262651, 28856709; Phenotypes: Developmental and epileptic encephalopathy 59, MIM# 617904; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.38 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Angelman Rett like syndromes v0.38 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.38 GABBR2 Zornitza Stark Classified gene: GABBR2 as Green List (high evidence)
Angelman Rett like syndromes v0.38 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.37 GABBR2 Zornitza Stark gene: GABBR2 was added
gene: GABBR2 was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR2 were set to 28856709; 26740508; 29369404
Phenotypes for gene: GABBR2 were set to Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903
Review for gene: GABBR2 was set to GREEN
Added comment: NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome.

At least 5 unrelated individuals reported.
Sources: Expert list
Angelman Rett like syndromes v0.36 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Angelman Rett like syndromes v0.36 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.36 SMC1A Zornitza Stark Classified gene: SMC1A as Green List (high evidence)
Angelman Rett like syndromes v0.36 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.35 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: SMC1A was set to Other
Publications for gene: SMC1A were set to 29023665; 31409060
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM# 300590; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Review for gene: SMC1A was set to GREEN
Added comment: At least 4 unrelated individuals identified in Rett-like cohorts.
Sources: Expert list
Mendeliome v0.5373 DNAH2 Zornitza Stark Marked gene: DNAH2 as ready
Mendeliome v0.5373 DNAH2 Zornitza Stark Gene: dnah2 has been classified as Green List (High Evidence).
Mendeliome v0.5373 DNAH2 Zornitza Stark Classified gene: DNAH2 as Green List (high evidence)
Mendeliome v0.5373 DNAH2 Zornitza Stark Gene: dnah2 has been classified as Green List (High Evidence).
Mendeliome v0.5372 DNAH2 Zornitza Stark gene: DNAH2 was added
gene: DNAH2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH2 were set to 30811583
Phenotypes for gene: DNAH2 were set to Spermatogenic failure 45, MIM# 619094
Review for gene: DNAH2 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Mendeliome v0.5371 CLDN9 Zornitza Stark Phenotypes for gene: CLDN9 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 116, MIM#619093
Mendeliome v0.5370 CLDN9 Zornitza Stark edited their review of gene: CLDN9: Changed phenotypes: Deafness, autosomal recessive 116, MIM#619093
Deafness_IsolatedAndComplex v1.17 CLDN9 Zornitza Stark Phenotypes for gene: CLDN9 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 116, MIM#619093
Deafness_IsolatedAndComplex v1.16 CLDN9 Zornitza Stark edited their review of gene: CLDN9: Changed phenotypes: Deafness, autosomal recessive 116, MIM#619093
Autoinflammatory Disorders v0.98 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) to Autoinflammatory disease, adult onset; VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054
Autoinflammatory Disorders v0.97 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark edited their review of gene: UBA1: Changed phenotypes: Autoinflammatory disease, adult onset, VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054
Mendeliome v0.5370 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Autoinflammatory disease, adult onset: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Autoinflammatory disease, adult onset: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) #301054
Mendeliome v0.5369 UBA1 Zornitza Stark edited their review of gene: UBA1: Changed phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830, Autoinflammatory disease, adult onset: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) #301054
Angelman Rett like syndromes v0.34 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Angelman Rett like syndromes v0.34 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.34 WDR45 Zornitza Stark Classified gene: WDR45 as Green List (high evidence)
Angelman Rett like syndromes v0.34 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.33 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: WDR45 was set to Other
Publications for gene: WDR45 were set to 26790960; 31409060
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: XLD.

Multiple individuals reported as part of Rett-like cohorts.
Sources: Expert list
Angelman Rett like syndromes v0.32 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Angelman Rett like syndromes v0.32 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.32 SYNGAP1 Zornitza Stark Classified gene: SYNGAP1 as Green List (high evidence)
Angelman Rett like syndromes v0.32 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.31 SYNGAP1 Zornitza Stark gene: SYNGAP1 was added
gene: SYNGAP1 was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYNGAP1 were set to 31105003
Phenotypes for gene: SYNGAP1 were set to Mental retardation, autosomal dominant 5, MIM# 612621
Review for gene: SYNGAP1 was set to GREEN
Added comment: More than 3 unrelated individuals reported as part of Rett-like cohorts.
Sources: Expert list
Angelman Rett like syndromes v0.30 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Angelman Rett like syndromes v0.30 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.30 KCNQ2 Zornitza Stark Classified gene: KCNQ2 as Green List (high evidence)
Angelman Rett like syndromes v0.30 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.29 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNQ2 were set to 31105003; 33134511
Phenotypes for gene: KCNQ2 were set to Epileptic encephalopathy, early infantile, 7, MIM# 613720
Review for gene: KCNQ2 was set to GREEN
Added comment: More than 3 unrelated individuals identified as part of Rett-like cohorts.
Sources: Expert list
Angelman Rett like syndromes v0.28 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Angelman Rett like syndromes v0.28 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.28 SCN2A Zornitza Stark Classified gene: SCN2A as Green List (high evidence)
Angelman Rett like syndromes v0.28 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.27 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN2A were set to 31105003
Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM# 613721; Rett-like
Review for gene: SCN2A was set to GREEN
Added comment: More than 5 unrelated individuals reported in Rett-like cohorts.
Sources: Expert list
Mendeliome v0.5369 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Mendeliome v0.5369 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Mendeliome v0.5369 FGFR1 Zornitza Stark Tag somatic tag was added to gene: FGFR1.
Mendeliome v0.5369 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from to Encephalocraniocutaneous lipomatosis, somatic mosaic 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440
Mendeliome v0.5368 FGFR1 Zornitza Stark Publications for gene: FGFR1 were set to
Mendeliome v0.5367 FGFR1 Zornitza Stark Mode of pathogenicity for gene: FGFR1 was changed from to Other
Mendeliome v0.5366 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.185 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Congenital Disorders of Glycosylation v0.185 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.185 B4GALT7 Zornitza Stark Phenotypes for gene: B4GALT7 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070
Congenital Disorders of Glycosylation v0.184 B4GALT7 Zornitza Stark Publications for gene: B4GALT7 were set to
Congenital Disorders of Glycosylation v0.183 B4GALT7 Zornitza Stark Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.182 B4GALT7 Zornitza Stark Tag founder tag was added to gene: B4GALT7.
Congenital Disorders of Glycosylation v0.182 B4GALT7 Zornitza Stark reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956117, 24755949, 31278392, 31614862, 31862401; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3193 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Intellectual disability syndromic and non-syndromic v0.3193 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3193 B4GALT7 Zornitza Stark Phenotypes for gene: B4GALT7 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Intellectual disability syndromic and non-syndromic v0.3192 B4GALT7 Zornitza Stark Publications for gene: B4GALT7 were set to
Intellectual disability syndromic and non-syndromic v0.3191 B4GALT7 Zornitza Stark Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3190 B4GALT7 Zornitza Stark reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: None; Publications: 23956117, 24755949, 31278392, 31614862, 31862401; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5365 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Mendeliome v0.5365 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Mendeliome v0.5365 B4GALT7 Zornitza Stark Phenotypes for gene: B4GALT7 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Mendeliome v0.5364 B4GALT7 Zornitza Stark Publications for gene: B4GALT7 were set to
Mendeliome v0.5363 B4GALT7 Zornitza Stark Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5362 B4GALT7 Zornitza Stark Tag founder tag was added to gene: B4GALT7.
Mendeliome v0.5362 B4GALT7 Zornitza Stark reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956117, 24755949; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.37 TBX6 Zornitza Stark Marked gene: TBX6 as ready
Skeletal Dysplasia_Fetal v0.37 TBX6 Zornitza Stark Gene: tbx6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.37 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from to Spondylocostal dysostosis 5, 122600
Skeletal Dysplasia_Fetal v0.36 TBX6 Zornitza Stark Publications for gene: TBX6 were set to
Skeletal Dysplasia_Fetal v0.35 TBX6 Zornitza Stark Mode of inheritance for gene: TBX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.34 TBX6 Zornitza Stark reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8954725, 20503311, 23335591, 25564734, 31015262, 30307510, 31015262; Phenotypes: Spondylocostal dysostosis 5, 122600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5362 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from Skeletal dysplasia; spondylocostal dysostosis; congenital scoliosis to Spondylocostal dysostosis 5, 122600
Skeletal dysplasia v0.64 TBX6 Zornitza Stark Marked gene: TBX6 as ready
Skeletal dysplasia v0.64 TBX6 Zornitza Stark Gene: tbx6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.64 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5 122600; Spondylocostal dysostosis 5 122600 to Spondylocostal dysostosis 5 122600
Skeletal dysplasia v0.63 TBX6 Zornitza Stark Publications for gene: TBX6 were set to
Skeletal dysplasia v0.62 TBX6 Zornitza Stark Mode of inheritance for gene: TBX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.61 TBX6 Zornitza Stark reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33058178, 31015262, 30636772, 28054739, 23335591, 30307510; Phenotypes: Spondylocostal dysostosis 5, 122600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.902 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Genetic Epilepsy v0.902 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.902 KCNQ2 Zornitza Stark Phenotypes for gene: KCNQ2 were changed from to Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200
Genetic Epilepsy v0.901 KCNQ2 Zornitza Stark Publications for gene: KCNQ2 were set to
Genetic Epilepsy v0.900 KCNQ2 Zornitza Stark Mode of pathogenicity for gene: KCNQ2 was changed from to Other
Genetic Epilepsy v0.899 KCNQ2 Zornitza Stark Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.898 KCNQ2 Zornitza Stark reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25959266, 32917465, 24318194; Phenotypes: Epileptic encephalopathy, early infantile, 7, 613720, Seizures, benign neonatal, 1, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5361 KCNQ2 Zornitza Stark edited their review of gene: KCNQ2: Changed rating: GREEN
Mendeliome v0.5361 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Mendeliome v0.5361 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Mendeliome v0.5361 KCNQ2 Zornitza Stark Phenotypes for gene: KCNQ2 were changed from to Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200
Mendeliome v0.5360 KCNQ2 Zornitza Stark Publications for gene: KCNQ2 were set to
Mendeliome v0.5359 KCNQ2 Zornitza Stark Mode of pathogenicity for gene: KCNQ2 was changed from to Other
Mendeliome v0.5358 KCNQ2 Zornitza Stark Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5357 KCNQ2 Elena Savva reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 25959266, 32917465, 24318194; Phenotypes: Epileptic encephalopathy, early infantile, 7, 613720, Seizures, benign neonatal, 1, 121200, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.5357 B4GALT7 Elena Savva reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070; Phenotypes: PMID: 31278392, 31614862, 31862401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5357 FGFR1 Elena Savva reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 18034870, 23812909, 26942290; Phenotypes: Encephalocraniocutaneous lipomatosis, somatic mosaic 613001, Hartsfield syndrome 615465, Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250, Pfeiffer syndrome 101600, Trigonocephaly 1 190440; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Autonomic neuropathy v0.42 LIFR Alison Yeung Marked gene: LIFR as ready
Autonomic neuropathy v0.42 LIFR Alison Yeung Gene: lifr has been classified as Green List (High Evidence).
Autonomic neuropathy v0.42 LIFR Alison Yeung Classified gene: LIFR as Green List (high evidence)
Autonomic neuropathy v0.42 LIFR Alison Yeung Gene: lifr has been classified as Green List (High Evidence).
Autonomic neuropathy v0.41 LIFR Alison Yeung gene: LIFR was added
gene: LIFR was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to OMIM# 601559 STUVE-WIEDEMANN SYNDROME; STWS
gene: LIFR was marked as current diagnostic
Added comment: Dysautonomia a common feature
Sources: Literature
Angelman Rett like syndromes v0.26 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Angelman Rett like syndromes v0.26 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.26 KIF1A Zornitza Stark Classified gene: KIF1A as Green List (high evidence)
Angelman Rett like syndromes v0.26 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.25 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1A were set to 31512412; 32652677
Phenotypes for gene: KIF1A were set to NESCAV syndrome, MIM# 614255; Rett-like syndrome
Review for gene: KIF1A was set to GREEN
Added comment: Individuals identified in Rett and Rett-like cohorts.
Sources: Literature
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.27 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.27 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.27 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, 191100; Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.26 TSC1 Zornitza Stark Publications for gene: TSC1 were set to 32917966
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.25 TSC1 Zornitza Stark Publications for gene: TSC1 were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.24 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.23 TSC1 Zornitza Stark Tag SV/CNV tag was added to gene: TSC1.
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.23 TSC1 Elena Savva reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32917966; Phenotypes: Tuberous sclerosis-1, 191100, Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341, Lymphangioleiomyomatosis, 606690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NHS Sarah Righetti reviewed gene: NHS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.47 COL4A5 Sarah Righetti reviewed gene: COL4A5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital ophthalmoplegia v0.47 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Congenital ophthalmoplegia v0.47 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.47 CHRNA1 Zornitza Stark Classified gene: CHRNA1 as Green List (high evidence)
Congenital ophthalmoplegia v0.47 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.46 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: CHRNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462
Review for gene: CHRNA1 was set to GREEN
Added comment: Ophthalmoplegia is a feature of this condition.
Sources: Expert list
Dilated Cardiomyopathy v0.89 FKRP Zornitza Stark Marked gene: FKRP as ready
Dilated Cardiomyopathy v0.89 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.89 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
Dilated Cardiomyopathy v0.88 FKRP Zornitza Stark Classified gene: FKRP as Green List (high evidence)
Dilated Cardiomyopathy v0.88 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.87 FKRP Elena Savva gene: FKRP was added
gene: FKRP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to PMID: 32914449
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
Review for gene: FKRP was set to GREEN
Added comment: PMID: 32914449 - reviewed 56 patients w/ LGMD R9 and biallelic FKRP mutations. Dilated cardiomyopathy detected in 45% of patients with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other genotypes.
Sources: Literature
Congenital ophthalmoplegia v0.45 CHAT Zornitza Stark Marked gene: CHAT as ready
Congenital ophthalmoplegia v0.45 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.45 CHAT Zornitza Stark Classified gene: CHAT as Green List (high evidence)
Congenital ophthalmoplegia v0.45 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.44 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, MIM# 254210
Review for gene: CHAT was set to GREEN
Added comment: Ophthalmoparesis and strabismus are a feature.
Sources: Expert list
Congenital ophthalmoplegia v0.43 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Congenital ophthalmoplegia v0.43 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.43 OPA1 Zornitza Stark Classified gene: OPA1 as Green List (high evidence)
Congenital ophthalmoplegia v0.43 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.42 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, MIM# 125250
Review for gene: OPA1 was set to GREEN
Added comment: Childhood onset disorder, characterised by optic atrophy, but progressive external ophthalmoplegia can be a feature.
Sources: Expert list
Congenital ophthalmoplegia v0.41 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Congenital ophthalmoplegia v0.41 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.41 PIEZO2 Zornitza Stark Classified gene: PIEZO2 as Green List (high evidence)
Congenital ophthalmoplegia v0.41 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.40 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5, MIM# 108145; Arthrogryposis, distal, type 3, MIM# 114300
Review for gene: PIEZO2 was set to GREEN
Added comment: Ophthalmoplegia is an associated feature.
Sources: Expert list
Congenital ophthalmoplegia v0.39 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Congenital ophthalmoplegia v0.39 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.39 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Green List (high evidence)
Congenital ophthalmoplegia v0.39 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.38 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Review for gene: NDUFS1 was set to GREEN
Added comment: Nystagmus, strabismus and ophthalmoplegia are features.
Sources: Expert list
Congenital ophthalmoplegia v0.37 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Congenital ophthalmoplegia v0.37 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.37 MGME1 Zornitza Stark Classified gene: MGME1 as Green List (high evidence)
Congenital ophthalmoplegia v0.37 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.36 MGME1 Zornitza Stark gene: MGME1 was added
gene: MGME1 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, MIM#615084
Review for gene: MGME1 was set to GREEN
Added comment: Onset in the first decade, and progressive external ophthalmoplegia is a prominent feature.
Sources: Expert list
Congenital ophthalmoplegia v0.35 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Congenital ophthalmoplegia v0.35 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.35 SLC9A6 Zornitza Stark Classified gene: SLC9A6 as Green List (high evidence)
Congenital ophthalmoplegia v0.35 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.34 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: SLC9A6 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: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Review for gene: SLC9A6 was set to GREEN
Added comment: Impaired eye movements including ophthalmoplegia are a feature.
Sources: Expert list
Autonomic neuropathy v0.39 DBH Alison Yeung Marked gene: DBH as ready
Autonomic neuropathy v0.39 DBH Alison Yeung Gene: dbh has been classified as Green List (High Evidence).
Autonomic neuropathy v0.39 DBH Alison Yeung Classified gene: DBH as Green List (high evidence)
Autonomic neuropathy v0.39 DBH Alison Yeung Gene: dbh has been classified as Green List (High Evidence).
Autonomic neuropathy v0.38 DBH Alison Yeung gene: DBH was added
gene: DBH was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBH were set to 21209083; 11857564
Phenotypes for gene: DBH were set to OMIM# 223360 ORTHOSTATIC HYPOTENSION 1; ORTHYP1
Review for gene: DBH was set to GREEN
Added comment: Two unrelated families reported and functional studies
Sources: Literature
Congenital ophthalmoplegia v0.33 PDHB Zornitza Stark Marked gene: PDHB as ready
Congenital ophthalmoplegia v0.33 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.33 PDHB Zornitza Stark Classified gene: PDHB as Green List (high evidence)
Congenital ophthalmoplegia v0.33 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.32 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111
Review for gene: PDHB was set to GREEN
Added comment: Well established gene disease association, strabismus and abnormal eye movements are a feature in addition to lactic acidosis and hypotonia.
Sources: Expert list
Congenital ophthalmoplegia v0.31 COLQ Zornitza Stark Marked gene: COLQ as ready
Congenital ophthalmoplegia v0.31 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.31 COLQ Zornitza Stark Classified gene: COLQ as Green List (high evidence)
Congenital ophthalmoplegia v0.31 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.30 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, MIM# 603034
Review for gene: COLQ was set to GREEN
Added comment: Well established gene-disease association. Ophthalmoparesis is a feature.
Sources: Expert list
Autonomic neuropathy v0.37 LMNB1 Alison Yeung Marked gene: LMNB1 as ready
Autonomic neuropathy v0.37 LMNB1 Alison Yeung Gene: lmnb1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.37 LMNB1 Alison Yeung Classified gene: LMNB1 as Green List (high evidence)
Autonomic neuropathy v0.37 LMNB1 Alison Yeung Gene: lmnb1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.36 LMNB1 Alison Yeung gene: LMNB1 was added
gene: LMNB1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LMNB1 were set to OMIM# 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD
Review for gene: LMNB1 was set to GREEN
gene: LMNB1 was marked as current diagnostic
Added comment: Autonomic dysfunction a common feature
Sources: Literature
Autonomic neuropathy v0.35 MADD Alison Yeung Marked gene: MADD as ready
Autonomic neuropathy v0.35 MADD Alison Yeung Gene: madd has been classified as Green List (High Evidence).
Autonomic neuropathy v0.35 MADD Alison Yeung Classified gene: MADD as Green List (high evidence)
Autonomic neuropathy v0.35 MADD Alison Yeung Gene: madd has been classified as Green List (High Evidence).
Autonomic neuropathy v0.34 MADD Alison Yeung gene: MADD was added
gene: MADD was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MADD were set to OMIM# 619004 DEEAH SYNDROME; DEEAH
Review for gene: MADD was set to GREEN
gene: MADD was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.33 PHOX2B Alison Yeung Marked gene: PHOX2B as ready
Autonomic neuropathy v0.33 PHOX2B Alison Yeung Gene: phox2b has been classified as Green List (High Evidence).
Autonomic neuropathy v0.33 PHOX2B Alison Yeung Classified gene: PHOX2B as Green List (high evidence)
Autonomic neuropathy v0.33 PHOX2B Alison Yeung Gene: phox2b has been classified as Green List (High Evidence).
Autonomic neuropathy v0.32 PHOX2B Alison Yeung gene: PHOX2B was added
gene: PHOX2B was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHOX2B were set to OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS
Review for gene: PHOX2B was set to GREEN
gene: PHOX2B was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.31 SCN9A Alison Yeung Marked gene: SCN9A as ready
Autonomic neuropathy v0.31 SCN9A Alison Yeung Gene: scn9a has been classified as Green List (High Evidence).
Autonomic neuropathy v0.31 SCN9A Alison Yeung Classified gene: SCN9A as Green List (high evidence)
Autonomic neuropathy v0.31 SCN9A Alison Yeung Gene: scn9a has been classified as Green List (High Evidence).
Autonomic neuropathy v0.30 SCN9A Alison Yeung gene: SCN9A was added
gene: SCN9A was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN9A were set to 23596073
Phenotypes for gene: SCN9A were set to OMIM# 243000 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED; HSAN2D,
Review for gene: SCN9A was set to GREEN
Added comment: Two unrelated Japanese families reported
Sources: Literature
Autonomic neuropathy v0.29 GMPPA Alison Yeung Marked gene: GMPPA as ready
Autonomic neuropathy v0.29 GMPPA Alison Yeung Gene: gmppa has been classified as Green List (High Evidence).
Autonomic neuropathy v0.29 GMPPA Alison Yeung Classified gene: GMPPA as Green List (high evidence)
Autonomic neuropathy v0.29 GMPPA Alison Yeung Gene: gmppa has been classified as Green List (High Evidence).
Autonomic neuropathy v0.28 GMPPA Alison Yeung gene: GMPPA was added
gene: GMPPA was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to # 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR
Review for gene: GMPPA was set to GREEN
gene: GMPPA was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.27 AAAS Alison Yeung Marked gene: AAAS as ready
Autonomic neuropathy v0.27 AAAS Alison Yeung Gene: aaas has been classified as Green List (High Evidence).
Autonomic neuropathy v0.27 AAAS Alison Yeung Classified gene: AAAS as Green List (high evidence)
Autonomic neuropathy v0.27 AAAS Alison Yeung Gene: aaas has been classified as Green List (High Evidence).
Autonomic neuropathy v0.26 AAAS Alison Yeung gene: AAAS was added
gene: AAAS was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to OMIM# 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS
Review for gene: AAAS was set to GREEN
gene: AAAS was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.25 WNK1 Alison Yeung Marked gene: WNK1 as ready
Autonomic neuropathy v0.25 WNK1 Alison Yeung Gene: wnk1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.25 WNK1 Alison Yeung Classified gene: WNK1 as Green List (high evidence)
Autonomic neuropathy v0.25 WNK1 Alison Yeung Gene: wnk1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.24 WNK1 Alison Yeung gene: WNK1 was added
gene: WNK1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to # 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
Review for gene: WNK1 was set to GREEN
gene: WNK1 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.23 ATL3 Alison Yeung Phenotypes for gene: ATL3 were changed from OMIM# 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A to # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F
Autonomic neuropathy v0.22 ATL3 Alison Yeung Classified gene: ATL3 as Red List (low evidence)
Autonomic neuropathy v0.22 ATL3 Alison Yeung Gene: atl3 has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.21 ATL3 Alison Yeung commented on gene: ATL3: Incorrect OMIM phenotype entered in previous review. ATL3 variants not associated with autonomic dysfunction.
Autonomic neuropathy v0.21 ATL3 Alison Yeung reviewed gene: ATL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF, HSN1F; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Autonomic neuropathy v0.21 ATL3 Alison Yeung Deleted their review
Autonomic neuropathy v0.21 SPTLC2 Alison Yeung Marked gene: SPTLC2 as ready
Autonomic neuropathy v0.21 SPTLC2 Alison Yeung Gene: sptlc2 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.21 SPTLC2 Alison Yeung Classified gene: SPTLC2 as Green List (high evidence)
Autonomic neuropathy v0.21 SPTLC2 Alison Yeung Gene: sptlc2 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.20 SPTLC2 Alison Yeung gene: SPTLC2 was added
gene: SPTLC2 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to OMIM# 613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C
Review for gene: SPTLC2 was set to GREEN
gene: SPTLC2 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.19 ATL3 Alison Yeung Marked gene: ATL3 as ready
Autonomic neuropathy v0.19 ATL3 Alison Yeung Gene: atl3 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.19 ATL3 Alison Yeung Classified gene: ATL3 as Green List (high evidence)
Autonomic neuropathy v0.19 ATL3 Alison Yeung Gene: atl3 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.18 ATL3 Alison Yeung gene: ATL3 was added
gene: ATL3 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: ATL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATL3 were set to OMIM# 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
Review for gene: ATL3 was set to GREEN
gene: ATL3 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.17 PRDM12 Alison Yeung Marked gene: PRDM12 as ready
Autonomic neuropathy v0.17 PRDM12 Alison Yeung Gene: prdm12 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.17 PRDM12 Alison Yeung Classified gene: PRDM12 as Green List (high evidence)
Autonomic neuropathy v0.17 PRDM12 Alison Yeung Gene: prdm12 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.16 PRDM12 Alison Yeung gene: PRDM12 was added
gene: PRDM12 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to OMIM# 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8
Review for gene: PRDM12 was set to GREEN
gene: PRDM12 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.15 ELP1 Alison Yeung Classified gene: ELP1 as Green List (high evidence)
Autonomic neuropathy v0.15 ELP1 Alison Yeung Gene: elp1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.14 ELP1 Alison Yeung Marked gene: ELP1 as ready
Autonomic neuropathy v0.14 ELP1 Alison Yeung Gene: elp1 has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.14 ELP1 Alison Yeung gene: ELP1 was added
gene: ELP1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Review for gene: ELP1 was set to GREEN
gene: ELP1 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.13 SPTLC1 Alison Yeung Marked gene: SPTLC1 as ready
Autonomic neuropathy v0.13 SPTLC1 Alison Yeung Gene: sptlc1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.13 SPTLC1 Alison Yeung Classified gene: SPTLC1 as Green List (high evidence)
Autonomic neuropathy v0.13 SPTLC1 Alison Yeung Gene: sptlc1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.12 SPTLC1 Alison Yeung gene: SPTLC1 was added
gene: SPTLC1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC1 were set to OMIM# 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A
Review for gene: SPTLC1 was set to GREEN
gene: SPTLC1 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.11 DST Alison Yeung Marked gene: DST as ready
Autonomic neuropathy v0.11 DST Alison Yeung Added comment: Comment when marking as ready: Single family reported 2012
Autonomic neuropathy v0.11 DST Alison Yeung Gene: dst has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.11 DST Alison Yeung Classified gene: DST as Red List (low evidence)
Autonomic neuropathy v0.11 DST Alison Yeung Gene: dst has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.10 DST Alison Yeung gene: DST was added
gene: DST was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DST were set to OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6
Review for gene: DST was set to AMBER
gene: DST was marked as current diagnostic
Added comment: single consanguineous family reported
Sources: Literature
Autonomic neuropathy v0.9 RETREG1 Alison Yeung Marked gene: RETREG1 as ready
Autonomic neuropathy v0.9 RETREG1 Alison Yeung Gene: retreg1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.9 RETREG1 Alison Yeung Classified gene: RETREG1 as Green List (high evidence)
Autonomic neuropathy v0.9 RETREG1 Alison Yeung Gene: retreg1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.8 RETREG1 Alison Yeung gene: RETREG1 was added
gene: RETREG1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to OMIM# 613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B
Review for gene: RETREG1 was set to GREEN
gene: RETREG1 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.7 SCN11A Alison Yeung Classified gene: SCN11A as Green List (high evidence)
Autonomic neuropathy v0.7 SCN11A Alison Yeung Gene: scn11a has been classified as Green List (High Evidence).
Autonomic neuropathy v0.6 SCN11A Alison Yeung Marked gene: SCN11A as ready
Autonomic neuropathy v0.6 SCN11A Alison Yeung Gene: scn11a has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.6 SCN11A Alison Yeung gene: SCN11A was added
gene: SCN11A was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN11A were set to OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7
Review for gene: SCN11A was set to GREEN
gene: SCN11A was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.5 NTRK1 Alison Yeung Marked gene: NTRK1 as ready
Autonomic neuropathy v0.5 NTRK1 Alison Yeung Gene: ntrk1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.5 NTRK1 Alison Yeung Classified gene: NTRK1 as Green List (high evidence)
Autonomic neuropathy v0.5 NTRK1 Alison Yeung Gene: ntrk1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.4 NTRK1 Alison Yeung gene: NTRK1 was added
gene: NTRK1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to OMIM# 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1
Review for gene: NTRK1 was set to GREEN
Added comment: Sources: Literature
Autonomic neuropathy v0.3 NGF Alison Yeung Classified gene: NGF as Green List (high evidence)
Autonomic neuropathy v0.3 NGF Alison Yeung Gene: ngf has been classified as Green List (High Evidence).
Autonomic neuropathy v0.2 NGF Alison Yeung gene: NGF was added
gene: NGF was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGF were set to OMIM #608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5
Review for gene: NGF was set to GREEN
gene: NGF was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.1 Alison Yeung Panel status changed from internal to public
Autonomic neuropathy v0.0 Alison Yeung Added Panel Autonomic neuropathy
Set panel types to: Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.5357 ADAR Zornitza Stark Marked gene: ADAR as ready
Mendeliome v0.5357 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Mendeliome v0.5357 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from to Aicardi-Goutieres syndrome 6, MIM# 615010; Dyschromatosis symmetrica hereditaria, MIM# 127400
Mendeliome v0.5356 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5355 ADAR Zornitza Stark reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010, Dyschromatosis symmetrica hereditaria, MIM# 127400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v0.64 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v0.63 ADAR Zornitza Stark edited their review of gene: ADAR: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.29 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Congenital ophthalmoplegia v0.29 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.29 SLC19A3 Zornitza Stark Classified gene: SLC19A3 as Green List (high evidence)
Congenital ophthalmoplegia v0.29 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.28 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Review for gene: SLC19A3 was set to GREEN
Added comment: Well established gene-disease association, treatable condition. External ophthalmoplegia is a feature.
Sources: Expert list
Congenital ophthalmoplegia v0.27 GBA Zornitza Stark Marked gene: GBA as ready
Congenital ophthalmoplegia v0.27 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.27 GBA Zornitza Stark Classified gene: GBA as Green List (high evidence)
Congenital ophthalmoplegia v0.27 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.26 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease, type II, MIM# 230900
Review for gene: GBA was set to GREEN
Added comment: Well established gene-disease association. Cranial nerve involvement is common and can manifest as convergent squint, strabismus, ocular paresis, oculomotor apraxia.
Sources: Expert list
Congenital ophthalmoplegia v0.24 Zornitza Stark Panel name changed from Congenital fibrosis of the extraocular muscles to Congenital ophthalmoplegia
Mitochondrial disease v0.555 NDUFB10 Zornitza Stark Publications for gene: NDUFB10 were set to 28040730; 32025618
Mendeliome v0.5355 NDUFB10 Zornitza Stark Classified gene: NDUFB10 as Green List (high evidence)
Mendeliome v0.5355 NDUFB10 Zornitza Stark Gene: ndufb10 has been classified as Green List (High Evidence).
Mendeliome v0.5354 NDUFB10 Zornitza Stark Publications for gene: NDUFB10 were set to 28040730; 32025618
Mendeliome v0.5353 NDUFB10 Zornitza Stark edited their review of gene: NDUFB10: Added comment: Second family reported, functional data, upgrade to Green.; Changed rating: GREEN; Changed publications: 28040730, 32025618, 33169436
Mitochondrial disease v0.554 NDUFB10 Zornitza Stark Classified gene: NDUFB10 as Green List (high evidence)
Mitochondrial disease v0.554 NDUFB10 Zornitza Stark Gene: ndufb10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.553 NDUFB10 Zornitza Stark edited their review of gene: NDUFB10: Added comment: Second family reported, functional data, upgrade to Green.; Changed rating: GREEN; Changed publications: 33169436
Cerebral vascular malformations v0.6 RNF213 Daniel Flanagan reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28635953; Phenotypes: susceptibility to Moyamoya disease 2, (MIM# 607151); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.3 SCP2 Bryony Thompson Marked gene: SCP2 as ready
Neurodegeneration with brain iron accumulation v0.3 SCP2 Bryony Thompson Gene: scp2 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.3 SCP2 Bryony Thompson gene: SCP2 was added
gene: SCP2 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCP2 were set to 26497993
Phenotypes for gene: SCP2 were set to Neurodegeneration with brain iron accumulation; ataxia
Review for gene: SCP2 was set to RED
Added comment: A single case with biallelic variants has been reported with neurodegeneration with brain iron accumulation and ataxia.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.2 PSEN1 Bryony Thompson Marked gene: PSEN1 as ready
Neurodegeneration with brain iron accumulation v0.2 PSEN1 Bryony Thompson Gene: psen1 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v0.2 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Neuroferritinopathies. Sources: Literature
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 28664294
Phenotypes for gene: PSEN1 were set to Neurodegeneration with brain iron accumulation; Frontotemporal dementia, MIM# 600274
Review for gene: PSEN1 was set to RED
Added comment: A single case has been reported with a de novo variant and iron accumulation in the brain.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Neurodegeneration with brain iron accumulation v0.0 WDR45 Bryony Thompson gene: WDR45 was added
gene: WDR45 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
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)
Phenotypes for gene: WDR45 were set to Beta-propeller protein-associated neurodegeneration (BPAN)
Neurodegeneration with brain iron accumulation v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration (PLAN)
Neurodegeneration with brain iron accumulation v0.0 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Pantothenate kinase-associated neurodegeneration (PKAN)
Neurodegeneration with brain iron accumulation v0.0 FTL Bryony Thompson gene: FTL was added
gene: FTL was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FTL were set to Neuroferritinopathy
Neurodegeneration with brain iron accumulation v0.0 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Fatty acid hydroxylase-associated neurodegeneration (FAHN)
Neurodegeneration with brain iron accumulation v0.0 DCAF17 Bryony Thompson gene: DCAF17 was added
gene: DCAF17 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome
Neurodegeneration with brain iron accumulation v0.0 CP Bryony Thompson gene: CP was added
gene: CP was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminemia
Neurodegeneration with brain iron accumulation v0.0 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to OMIM 618266); COASY protein-associated neurodegeneration (CoPAN
Neurodegeneration with brain iron accumulation v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Mitochondrial membrane protein-associated neurodegeneration (MPAN)
Neurodegeneration with brain iron accumulation v0.0 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome (OMIM 606693)
Neurodegeneration with brain iron accumulation v0.0 Bryony Thompson Added panel Neuroferritinopathies
Mendeliome v0.5353 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM#618699; hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Mendeliome v0.5352 FOXJ1 Zornitza Stark edited their review of gene: FOXJ1: Changed phenotypes: Ciliary dyskinesia, primary, 43, MIM#618699, hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry
Hydrocephalus_Ventriculomegaly v0.71 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from Congenital hydrocephalus to Congenital hydrocephalus; Ciliary dyskinesia, primary, 43, MIM#618699
Hydrocephalus_Ventriculomegaly v0.70 FOXJ1 Zornitza Stark edited their review of gene: FOXJ1: Changed phenotypes: Congenital hydrocephalus, Ciliary dyskinesia, primary, 43, MIM#618699
Heterotaxy v1.1 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM#618699; Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Heterotaxy v1.0 FOXJ1 Zornitza Stark edited their review of gene: FOXJ1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Heterotaxy v1.0 FOXJ1 Zornitza Stark reviewed gene: FOXJ1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 43, MIM#618699; Mode of inheritance: None
Ciliary Dyskinesia v1.1 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM# 618699; hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Ciliary Dyskinesia v1.0 FOXJ1 Zornitza Stark edited their review of gene: FOXJ1: Changed phenotypes: Ciliary dyskinesia, primary, 43, MIM# 618699, hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry
Intellectual disability syndromic and non-syndromic v0.3190 MAPK1 Zornitza Stark Phenotypes for gene: MAPK1 were changed from Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin to Noonan syndrome 13, MIM#619087; Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin
Intellectual disability syndromic and non-syndromic v0.3189 MAPK1 Zornitza Stark reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 13, MIM#619087, Global developmental delay, Intellectual disability, Behavioral abnormality, Growth delay, Abnormality of the face, Abnormality of the neck, Abnormality of the cardiovascular system, Abnormality of the skin; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.90 MAPK1 Zornitza Stark Phenotypes for gene: MAPK1 were changed from Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin to Noonan syndrome 13, MIM#619087; Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin
Rasopathy v0.89 MAPK1 Zornitza Stark edited their review of gene: MAPK1: Changed phenotypes: Noonan syndrome 13, MIM#619087, Global developmental delay, Intellectual disability, Behavioral abnormality, Growth delay, Abnormality of the face, Abnormality of the neck, Abnormality of the cardiovascular system, Abnormality of the skin
Mendeliome v0.5352 MAPK1 Zornitza Stark Phenotypes for gene: MAPK1 were changed from Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin to Noonan syndrome 13, MIM#619087; Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin
Mendeliome v0.5351 MAPK1 Zornitza Stark edited their review of gene: MAPK1: Changed phenotypes: Noonan syndrome 13, MIM# 619087, Global developmental delay, Intellectual disability, Behavioral abnormality, Growth delay, Abnormality of the face, Abnormality of the neck, Abnormality of the cardiovascular system, Abnormality of the skin
Mendeliome v0.5351 SCD5 Zornitza Stark Marked gene: SCD5 as ready
Mendeliome v0.5351 SCD5 Zornitza Stark Gene: scd5 has been classified as Red List (Low Evidence).
Mendeliome v0.5351 SCD5 Zornitza Stark gene: SCD5 was added
gene: SCD5 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SCD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCD5 were set to 31972369
Phenotypes for gene: SCD5 were set to Deafness, autosomal dominant 79, MIM#619086
Review for gene: SCD5 was set to RED
Added comment: Single 5-generation family reported with a missense variant segregating in 19 affected individuals. Variant is found at a low frequency in ExAC.
Sources: Expert list
Deafness_IsolatedAndComplex v1.16 SCD5 Zornitza Stark Marked gene: SCD5 as ready
Deafness_IsolatedAndComplex v1.16 SCD5 Zornitza Stark Gene: scd5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.16 SCD5 Zornitza Stark gene: SCD5 was added
gene: SCD5 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: SCD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCD5 were set to 31972369
Phenotypes for gene: SCD5 were set to Deafness, autosomal dominant 79, MIM#619086
Review for gene: SCD5 was set to RED
Added comment: Single 5-generation family reported with a missense variant segregating in 19 affected individuals. Variant is found at a low frequency in ExAC.
Sources: Expert list
Mendeliome v0.5350 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Deafness, autosomal dominant 78, MIM#619081; Congenital, severe to profound hearing loss to Delpire-McNeill syndrome, MIM# 619083; Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Deafness, autosomal dominant 78, MIM#619081; Congenital, severe to profound hearing loss
Mendeliome v0.5349 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Changed phenotypes: Delpire-McNeill syndrome, MIM#619083, Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies, Deafness, autosomal dominant 78, MIM# 619081
Intellectual disability syndromic and non-syndromic v0.3189 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies to Delpire-McNeill syndrome, MIM# 619083; Kilquist syndrome, MIM#619080; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies
Intellectual disability syndromic and non-syndromic v0.3188 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Changed phenotypes: Delpire-McNeill syndrome, MIM# 619083, Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies
Deafness_IsolatedAndComplex v1.15 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay; Deafness, autosomal dominant 78, MIM# 619081
Deafness_IsolatedAndComplex v1.14 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies, Deafness, autosomal dominant 78, MIM# 619081
Mendeliome v0.5349 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Deafness, autosomal dominant 78, MIM#619081; Congenital, severe to profound hearing loss
Mendeliome v0.5348 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies, Deafness, autosomal dominant 78, MIM# 619081
Intellectual disability syndromic and non-syndromic v0.3188 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies to Kilquist syndrome, MIM#619080; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies
Intellectual disability syndromic and non-syndromic v0.3187 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies
Deafness_IsolatedAndComplex v1.14 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay
Deafness_IsolatedAndComplex v1.13 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies
Mendeliome v0.5348 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss to Kilquist syndrome, MIM#619080; deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss
Mendeliome v0.5347 SLC12A2 Zornitza Stark edited their review of gene: SLC12A2: Changed phenotypes: Kilquist syndrome, MIM#619080, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies
Brain Calcification v0.63 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Brain Calcification v0.63 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Brain Calcification v0.63 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Brain Calcification v0.62 CTC1 Zornitza Stark Publications for gene: CTC1 were set to
Brain Calcification v0.61 CTC1 Zornitza Stark Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.60 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5347 OCLN Zornitza Stark Marked gene: OCLN as ready
Mendeliome v0.5347 OCLN Zornitza Stark Gene: ocln has been classified as Green List (High Evidence).
Mendeliome v0.5347 OCLN Zornitza Stark Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1, MIM#251290
Mendeliome v0.5346 OCLN Zornitza Stark Publications for gene: OCLN were set to
Mendeliome v0.5345 OCLN Zornitza Stark Mode of inheritance for gene: OCLN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.60 OCLN Zornitza Stark Marked gene: OCLN as ready
Brain Calcification v0.60 OCLN Zornitza Stark Gene: ocln has been classified as Green List (High Evidence).
Mendeliome v0.5344 OCLN Zornitza Stark reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516, 32240828, 29192239, 28386946; Phenotypes: Pseudo-TORCH syndrome 1, MIM#251290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.60 OCLN Zornitza Stark Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1, MIM#251290
Brain Calcification v0.59 OCLN Zornitza Stark Publications for gene: OCLN were set to
Brain Calcification v0.58 OCLN Zornitza Stark Mode of inheritance for gene: OCLN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.57 OCLN Zornitza Stark reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516, 32240828, 29192239, 28386946; Phenotypes: Pseudo-TORCH syndrome 1, MIM#251290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.57 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Brain Calcification v0.57 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Brain Calcification v0.57 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM#133540
Brain Calcification v0.56 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.55 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type B, MIM#133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3187 JAM3 Zornitza Stark Marked gene: JAM3 as ready
Intellectual disability syndromic and non-syndromic v0.3187 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3187 JAM3 Zornitza Stark Phenotypes for gene: JAM3 were changed from to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Intellectual disability syndromic and non-syndromic v0.3186 JAM3 Zornitza Stark Publications for gene: JAM3 were set to
Intellectual disability syndromic and non-syndromic v0.3185 JAM3 Zornitza Stark Mode of inheritance for gene: JAM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3184 JAM3 Zornitza Stark reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5344 JAM3 Zornitza Stark Marked gene: JAM3 as ready
Mendeliome v0.5344 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Mendeliome v0.5344 JAM3 Zornitza Stark Phenotypes for gene: JAM3 were changed from to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Mendeliome v0.5343 JAM3 Zornitza Stark Publications for gene: JAM3 were set to
Mendeliome v0.5342 JAM3 Zornitza Stark Mode of inheritance for gene: JAM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5341 JAM3 Zornitza Stark reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.243 JAM3 Zornitza Stark Marked gene: JAM3 as ready
Cataract v0.243 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Cataract v0.243 JAM3 Zornitza Stark Phenotypes for gene: JAM3 were changed from to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Cataract v0.242 JAM3 Zornitza Stark Publications for gene: JAM3 were set to
Cataract v0.241 JAM3 Zornitza Stark Mode of inheritance for gene: JAM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.240 JAM3 Zornitza Stark reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.55 JAM3 Zornitza Stark Marked gene: JAM3 as ready
Brain Calcification v0.55 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Brain Calcification v0.55 JAM3 Zornitza Stark Phenotypes for gene: JAM3 were changed from to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Brain Calcification v0.54 JAM3 Zornitza Stark Publications for gene: JAM3 were set to
Brain Calcification v0.53 JAM3 Zornitza Stark Mode of inheritance for gene: JAM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.52 JAM3 Zornitza Stark reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.52 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Brain Calcification v0.52 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Brain Calcification v0.52 IFIH1 Zornitza Stark Phenotypes for gene: IFIH1 were changed from to Aicardi-Goutieres syndrome 7, MIM#615846
Brain Calcification v0.51 IFIH1 Zornitza Stark Publications for gene: IFIH1 were set to
Brain Calcification v0.50 IFIH1 Zornitza Stark Mode of inheritance for gene: IFIH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.49 IFIH1 Zornitza Stark reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24686847; Phenotypes: Aicardi-Goutieres syndrome 7, MIM#615846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.49 ADAR Zornitza Stark Marked gene: ADAR as ready
Brain Calcification v0.49 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Brain Calcification v0.49 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from to Aicardi-Goutieres syndrome 6, MIM#615010
Brain Calcification v0.48 ADAR Zornitza Stark Publications for gene: ADAR were set to
Brain Calcification v0.47 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.46 ADAR Zornitza Stark reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 23001123, 24262145; Phenotypes: Aicardi-Goutieres syndrome 6, MIM#615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Microcephaly v0.498 POLE Zornitza Stark edited their review of gene: POLE: Changed rating: GREEN
Microcephaly v0.498 POLE Zornitza Stark Marked gene: POLE as ready
Microcephaly v0.498 POLE Zornitza Stark Added comment: Comment when marking as ready: The association with microcephaly relates to IMAGE-I syndrome.
Microcephaly v0.498 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Microcephaly v0.498 POLE Zornitza Stark Phenotypes for gene: POLE were changed from FILS syndrome 615139; IMAGE-I syndrome 618336 to IMAGE-I syndrome, MIM# 618336
Microcephaly v0.497 POLE Zornitza Stark Classified gene: POLE as Green List (high evidence)
Microcephaly v0.497 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Microcephaly v0.496 POLE Elena Savva gene: POLE was added
gene: POLE was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to PMID: 30503519
Phenotypes for gene: POLE were set to FILS syndrome 615139; IMAGE-I syndrome 618336
Review for gene: POLE was set to GREEN
Added comment: PMID: 30503519 - microcephaly reported in multiple patients with biallelic LOF variants
Sources: Literature
Autism v0.117 NCKAP1 Zornitza Stark Marked gene: NCKAP1 as ready
Autism v0.117 NCKAP1 Zornitza Stark Gene: nckap1 has been classified as Green List (High Evidence).
Autism v0.117 NCKAP1 Zornitza Stark Phenotypes for gene: NCKAP1 were changed from to Intellectual disability; autism
Autism v0.116 NCKAP1 Zornitza Stark Publications for gene: NCKAP1 were set to
Autism v0.115 NCKAP1 Zornitza Stark Mode of inheritance for gene: NCKAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.114 NCKAP1 Zornitza Stark reviewed gene: NCKAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33157009; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5341 NCKAP1 Zornitza Stark Marked gene: NCKAP1 as ready
Mendeliome v0.5341 NCKAP1 Zornitza Stark Gene: nckap1 has been classified as Green List (High Evidence).
Mendeliome v0.5341 NCKAP1 Zornitza Stark Phenotypes for gene: NCKAP1 were changed from to Intellectual disability; autism
Mendeliome v0.5340 NCKAP1 Zornitza Stark Publications for gene: NCKAP1 were set to
Mendeliome v0.5339 NCKAP1 Zornitza Stark Mode of inheritance for gene: NCKAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5338 NCKAP1 Zornitza Stark reviewed gene: NCKAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33157009; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3184 NCKAP1 Zornitza Stark Marked gene: NCKAP1 as ready
Intellectual disability syndromic and non-syndromic v0.3184 NCKAP1 Zornitza Stark Gene: nckap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3184 NCKAP1 Zornitza Stark Phenotypes for gene: NCKAP1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.3183 NCKAP1 Zornitza Stark Publications for gene: NCKAP1 were set to
Intellectual disability syndromic and non-syndromic v0.3182 NCKAP1 Zornitza Stark Mode of inheritance for gene: NCKAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3181 NCKAP1 Zornitza Stark reviewed gene: NCKAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33157009; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome_PREGEN_DRAFT v0.1 Zornitza Stark Panel types changed to New South Wales Health Pathology
Incidentalome_PREGEN_DRAFT v0.0 ZBTB16 Zornitza Stark gene: ZBTB16 was added
gene: ZBTB16 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ZBTB16 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: VHL was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TRIM33 Zornitza Stark gene: TRIM33 was added
gene: TRIM33 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TRIM33 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TRIM27 Zornitza Stark gene: TRIM27 was added
gene: TRIM27 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TRIM27 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TRIM24 Zornitza Stark gene: TRIM24 was added
gene: TRIM24 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TRIM24 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TPR Zornitza Stark gene: TPR was added
gene: TPR was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TPR was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TP53 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TGFBR2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TFG Zornitza Stark gene: TFG was added
gene: TFG was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TFG was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TET2 Zornitza Stark gene: TET2 was added
gene: TET2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TET2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TCF12 Zornitza Stark gene: TCF12 was added
gene: TCF12 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TCF12 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TBL1XR1 Zornitza Stark gene: TBL1XR1 was added
gene: TBL1XR1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TBL1XR1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TAF15 Zornitza Stark gene: TAF15 was added
gene: TAF15 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TAF15 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TACC3 Zornitza Stark gene: TACC3 was added
gene: TACC3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TACC3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TACC1 Zornitza Stark gene: TACC1 was added
gene: TACC1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TACC1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SUFU Zornitza Stark gene: SUFU was added
gene: SUFU was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SUFU was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 STAT5B Zornitza Stark gene: STAT5B was added
gene: STAT5B was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: STAT5B was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SRD5A2 Zornitza Stark gene: SRD5A2 was added
gene: SRD5A2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SRD5A2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SMAD4 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SDHD was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SDHC Zornitza Stark gene: SDHC was added
gene: SDHC was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SDHC was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SDHB Zornitza Stark gene: SDHB was added
gene: SDHB was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SDHB was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SDHAF2 Zornitza Stark gene: SDHAF2 was added
gene: SDHAF2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SDHAF2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SDHA was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: RUNX1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 RPS20 Zornitza Stark gene: RPS20 was added
gene: RPS20 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: RPS20 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 RPS14 Zornitza Stark gene: RPS14 was added
gene: RPS14 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: RPS14 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 RNASEL Zornitza Stark gene: RNASEL was added
gene: RNASEL was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: RNASEL was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 RET Zornitza Stark gene: RET was added
gene: RET was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: RET was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 RARA Zornitza Stark gene: RARA was added
gene: RARA was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: RARA was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PTPN3 Zornitza Stark gene: PTPN3 was added
gene: PTPN3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PTPN3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PTEN was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PRLR Zornitza Stark gene: PRLR was added
gene: PRLR was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PRLR was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PRKAR1A was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PPARG was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 POT1 Zornitza Stark gene: POT1 was added
gene: POT1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: POT1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PMS2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PMS1 Zornitza Stark gene: PMS1 was added
gene: PMS1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PMS1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PML Zornitza Stark gene: PML was added
gene: PML was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PML was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PIK3CA was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PDGFRB Zornitza Stark gene: PDGFRB was added
gene: PDGFRB was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PDGFRB was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PDGFRA Zornitza Stark gene: PDGFRA was added
gene: PDGFRA was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PDGFRA was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PCM1 Zornitza Stark gene: PCM1 was added
gene: PCM1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PCM1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PALB2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NUMA1 Zornitza Stark gene: NUMA1 was added
gene: NUMA1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NUMA1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NTRK1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NR4A3 Zornitza Stark gene: NR4A3 was added
gene: NR4A3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NR4A3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NPM1 Zornitza Stark gene: NPM1 was added
gene: NPM1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NPM1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NLRP7 Zornitza Stark gene: NLRP7 was added
gene: NLRP7 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NLRP7 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NKX2-1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NFKBIA Zornitza Stark gene: NFKBIA was added
gene: NFKBIA was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NFKBIA was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NF2 Zornitza Stark gene: NF2 was added
gene: NF2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NF2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NDUFA13 Zornitza Stark gene: NDUFA13 was added
gene: NDUFA13 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NDUFA13 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NCOA4 Zornitza Stark gene: NCOA4 was added
gene: NCOA4 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NCOA4 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NBN was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NABP1 Zornitza Stark gene: NABP1 was added
gene: NABP1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NABP1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MUTYH Zornitza Stark gene: MUTYH was added
gene: MUTYH was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MUTYH was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MSR1 Zornitza Stark gene: MSR1 was added
gene: MSR1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MSR1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MSMB Zornitza Stark gene: MSMB was added
gene: MSMB was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MSMB was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MSH6 Zornitza Stark gene: MSH6 was added
gene: MSH6 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MSH6 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MSH2 Zornitza Stark gene: MSH2 was added
gene: MSH2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MSH2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MLH3 Zornitza Stark gene: MLH3 was added
gene: MLH3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MLH3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MLH1 Zornitza Stark gene: MLH1 was added
gene: MLH1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MLH1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MGMT Zornitza Stark gene: MGMT was added
gene: MGMT was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MGMT was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MET Zornitza Stark gene: MET was added
gene: MET was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MET was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MEN1 Zornitza Stark gene: MEN1 was added
gene: MEN1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MEN1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MDM2 Zornitza Stark gene: MDM2 was added
gene: MDM2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MDM2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MANF Zornitza Stark gene: MANF was added
gene: MANF was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MANF was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MALT1 Zornitza Stark gene: MALT1 was added
gene: MALT1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MALT1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: LZTR1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 LRRFIP2 Zornitza Stark gene: LRRFIP2 was added
gene: LRRFIP2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: LRRFIP2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: KRAS was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 KIT Zornitza Stark gene: KIT was added
gene: KIT was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: KIT was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 KHDC3L Zornitza Stark gene: KHDC3L was added
gene: KHDC3L was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: KHDC3L was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 IGHV4-34 Zornitza Stark gene: IGHV4-34 was added
gene: IGHV4-34 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: IGHV4-34 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 IGHV3-21 Zornitza Stark gene: IGHV3-21 was added
gene: IGHV3-21 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: IGHV3-21 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 IGHG1 Zornitza Stark gene: IGHG1 was added
gene: IGHG1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: IGHG1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: IDH2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 IDH1 Zornitza Stark gene: IDH1 was added
gene: IDH1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: IDH1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 HOXB13 Zornitza Stark gene: HOXB13 was added
gene: HOXB13 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: HOXB13 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: HNF1B was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 HMGA2 Zornitza Stark gene: HMGA2 was added
gene: HMGA2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: HMGA2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 HLA-DRB1 Zornitza Stark gene: HLA-DRB1 was added
gene: HLA-DRB1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: HLA-DRB1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 GOLGA5 Zornitza Stark gene: GOLGA5 was added
gene: GOLGA5 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: GOLGA5 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 FUS Zornitza Stark gene: FUS was added
gene: FUS was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: FUS was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: FOXP1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: FOXE1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 FLT3 Zornitza Stark gene: FLT3 was added
gene: FLT3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: FLT3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 FLCN Zornitza Stark gene: FLCN was added
gene: FLCN was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: FLCN was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 FIP1L1 Zornitza Stark gene: FIP1L1 was added
gene: FIP1L1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: FIP1L1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: FGFR3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: FGFR1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 EWSR1 Zornitza Stark gene: EWSR1 was added
gene: EWSR1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: EWSR1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ETV6 Zornitza Stark gene: ETV6 was added
gene: ETV6 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ETV6 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ERC1 Zornitza Stark gene: ERC1 was added
gene: ERC1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ERC1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 EPHB2 Zornitza Stark gene: EPHB2 was added
gene: EPHB2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: EPHB2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: EPCAM was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ELAC2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 EGFR Zornitza Stark gene: EGFR was added
gene: EGFR was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: EGFR was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 DIRC3 Zornitza Stark gene: DIRC3 was added
gene: DIRC3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: DIRC3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 DDIT3 Zornitza Stark gene: DDIT3 was added
gene: DDIT3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: DDIT3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CSF3R Zornitza Stark gene: CSF3R was added
gene: CSF3R was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CSF3R was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CREB3L2 Zornitza Stark gene: CREB3L2 was added
gene: CREB3L2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CREB3L2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CREB3L1 Zornitza Stark gene: CREB3L1 was added
gene: CREB3L1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CREB3L1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CHEK2 Zornitza Stark gene: CHEK2 was added
gene: CHEK2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CHEK2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CDKN2A Zornitza Stark gene: CDKN2A was added
gene: CDKN2A was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CDKN2A was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CDK4 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CDH1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CCND1 Zornitza Stark gene: CCND1 was added
gene: CCND1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CCND1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CCDC6 Zornitza Stark gene: CCDC6 was added
gene: CCDC6 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CCDC6 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: BRAF was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 BMPR1A Zornitza Stark gene: BMPR1A was added
gene: BMPR1A was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: BMPR1A was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 BIRC3 Zornitza Stark gene: BIRC3 was added
gene: BIRC3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: BIRC3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 BCR Zornitza Stark gene: BCR was added
gene: BCR was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: BCR was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 BCL6 Zornitza Stark gene: BCL6 was added
gene: BCL6 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: BCL6 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 BCL2 Zornitza Stark gene: BCL2 was added
gene: BCL2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: BCL2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 BAP1 Zornitza Stark gene: BAP1 was added
gene: BAP1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: BAP1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ATM was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ARL11 Zornitza Stark gene: ARL11 was added
gene: ARL11 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ARL11 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 APC Zornitza Stark gene: APC was added
gene: APC was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: APC was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ABL1 Zornitza Stark gene: ABL1 was added
gene: ABL1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ABL1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CACNA1S was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: RYR1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TGFBR1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SMAD3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MYH11 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: FBN1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: COL3A1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ACTA2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TPM1 Zornitza Stark gene: TPM1 was added
gene: TPM1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TPM1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TNNT2 Zornitza Stark gene: TNNT2 was added
gene: TNNT2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TNNT2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TNNI3 Zornitza Stark gene: TNNI3 was added
gene: TNNI3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TNNI3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TMEM43 Zornitza Stark gene: TMEM43 was added
gene: TMEM43 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TMEM43 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SCN5A was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 RYR2 Zornitza Stark gene: RYR2 was added
gene: RYR2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: RYR2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PRKAG2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PKP2 Zornitza Stark gene: PKP2 was added
gene: PKP2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PKP2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: LMNA was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MYH7 Zornitza Stark gene: MYH7 was added
gene: MYH7 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MYH7 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MYL3 Zornitza Stark gene: MYL3 was added
gene: MYL3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MYL3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MYL2 Zornitza Stark gene: MYL2 was added
gene: MYL2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MYL2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MYBPC3 Zornitza Stark gene: MYBPC3 was added
gene: MYBPC3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MYBPC3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 KCNH2 Zornitza Stark gene: KCNH2 was added
gene: KCNH2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: KCNH2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: KCNQ1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: GLA was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: DSP was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 DSG2 Zornitza Stark gene: DSG2 was added
gene: DSG2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: DSG2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 DSC2 Zornitza Stark gene: DSC2 was added
gene: DSC2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: DSC2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ACTC1 Zornitza Stark gene: ACTC1 was added
gene: ACTC1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ACTC1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 WT1 Zornitza Stark gene: WT1 was added
gene: WT1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: WT1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 STK11 Zornitza Stark gene: STK11 was added
gene: STK11 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: STK11 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 RB1 Zornitza Stark gene: RB1 was added
gene: RB1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: RB1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: BRCA2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: BRCA1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ATP7B was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: GBA was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SNCB Zornitza Stark gene: SNCB was added
gene: SNCB was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SNCB was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SNCA Zornitza Stark gene: SNCA was added
gene: SNCA was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SNCA was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TARDBP Zornitza Stark gene: TARDBP was added
gene: TARDBP was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TARDBP was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CHMP2B Zornitza Stark gene: CHMP2B was added
gene: CHMP2B was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CHMP2B was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 C9orf72 Zornitza Stark gene: C9orf72 was added
gene: C9orf72 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: C9orf72 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 GRN Zornitza Stark gene: GRN was added
gene: GRN was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: GRN was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 MAPT Zornitza Stark gene: MAPT was added
gene: MAPT was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: MAPT was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 ITM2B Zornitza Stark gene: ITM2B was added
gene: ITM2B was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: ITM2B was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 CST3 Zornitza Stark gene: CST3 was added
gene: CST3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: CST3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: NOTCH3 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 SQSTM1 Zornitza Stark gene: SQSTM1 was added
gene: SQSTM1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: SQSTM1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 VCP Zornitza Stark gene: VCP was added
gene: VCP was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: VCP was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TYROBP Zornitza Stark gene: TYROBP was added
gene: TYROBP was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TYROBP was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 TREM2 Zornitza Stark gene: TREM2 was added
gene: TREM2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: TREM2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PSEN2 Zornitza Stark gene: PSEN2 was added
gene: PSEN2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PSEN2 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 PSEN1 Zornitza Stark gene: PSEN1 was added
gene: PSEN1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: PSEN1 was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 APP Zornitza Stark gene: APP was added
gene: APP was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology
Mode of inheritance for gene: APP was set to Unknown
Incidentalome_PREGEN_DRAFT v0.0 Zornitza Stark Added panel Incidentalome_NSW
Cardiomyopathy_Paediatric v0.41 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Cardiomyopathy_Paediatric v0.41 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.41 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from 618810 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810; perinatal cardiomyopathy; cataracts; corneal clouding
Cardiomyopathy_Paediatric v0.40 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to PMID: 32004445
Cardiomyopathy_Paediatric v0.39 ATAD3A Zornitza Stark Tag SV/CNV tag was added to gene: ATAD3A.
Cardiomyopathy_Paediatric v0.39 ATAD3A Zornitza Stark Classified gene: ATAD3A as Green List (high evidence)
Cardiomyopathy_Paediatric v0.39 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.38 ATAD3A John Christodoulou reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32004445, PMID: 27640307, PMID: 28549128, also Frazier et al, Med (in press); Phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810, perinatal cardiomyopathy, cataracts, corneal clouding; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5338 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Mendeliome v0.5338 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Mendeliome v0.5338 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Mendeliome v0.5337 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Mendeliome v0.5336 ACAD9 Zornitza Stark Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5335 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30025539; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 MIM#611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5335 CNP Zornitza Stark Phenotypes for gene: CNP were changed from Hypomyelinating leukodystrophy to Leukodystrophy, hypomyelinating, 20, MIM# 619071
Mendeliome v0.5334 CNP Zornitza Stark reviewed gene: CNP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 20, MIM# 619071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.208 CNP Zornitza Stark Phenotypes for gene: CNP were changed from Hypomyelinating leukodystrophy to Leukodystrophy, hypomyelinating, 20, MIM# 619071
Leukodystrophy v0.207 CNP Zornitza Stark reviewed gene: CNP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 20, MIM# 619071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.38 ATAD3A John Christodoulou gene: ATAD3A was added
gene: ATAD3A was added to Cardiomyopathy_Paediatric. Sources: Literature,Expert Review
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to PMID: 32004445
Phenotypes for gene: ATAD3A were set to 618810
Penetrance for gene: ATAD3A were set to Complete
Mitochondrial disease v0.553 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Mitochondrial disease v0.553 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Mitochondrial disease v0.553 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Mitochondrial disease v0.552 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Mitochondrial disease v0.551 ACAD9 Zornitza Stark Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.550 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30025539; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 MIM#611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3181 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Intellectual disability syndromic and non-syndromic v0.3181 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3181 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Intellectual disability syndromic and non-syndromic v0.3180 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Intellectual disability syndromic and non-syndromic v0.3179 ACAD9 Zornitza Stark Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3178 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30025539; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 MIM#611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NEXMIF Sarah Righetti reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked 98, MIM #300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.47 CLCN4 Sarah Righetti reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844; Phenotypes: Raynaud-Claes syndrome, MIM #300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NYX Sarah Righetti Deleted their comment
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NYX Sarah Righetti edited their review of gene: NYX: Added comment: Clinical summary: Function of rods disrupted - difficulty seeing in low light. Other vision problems including reduced acuity (20/30 to 20/200) which is considered mild-moderate visual impairment or reduced-low vision. 20/40 is Australian legal driving limit. Myopia - can range from low to high. May have nystagmus/strabismus. Color vision not affected. Non-progressive, present at birth.

Severe end of phenoypic spectrum meets MM criteria for inclusion - GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NYX Sarah Righetti reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.47 COL2A1 Sarah Righetti Deleted their comment
Mackenzie's Mission_Reproductive Carrier Screening v0.47 COL2A1 Sarah Righetti edited their review of gene: COL2A1: Added comment: Limited evidence for a recessive condition. 8 patients from 5 families, at least 2 mildly affected. Almost all literature dominant.

PMID: 31755234 (Girisha et al. 2020) six patients from 4 families, variability in phenotype.

PMID: 32896647 (Al-Sannaa et al 2020) two sibs from consang family with disproportionate short stature, ocular abnormalities, cleft palate and hearing impairment. Radiographic study showed signs of a spondyloepiphyseal dysplasia, compatible with a type 2 collagen disorder. Both siblings homozygous for c.3111+2T > C p.(Glu1 033Lysfs *5) splice site variant in the COL2A1 gene. Het parents phenotypically normal. cDNA analysis on skin fibroblasts demonstrated abberant splicing.
Created: 6 Nov 2020, 4:59 a.; Changed rating: AMBER
Mackenzie's Mission_Reproductive Carrier Screening v0.47 COL2A1 Sarah Righetti reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: 31755234, 32896647; Phenotypes: Spondyloperipheral dysplasia, MIM #271700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.47 MBTPS1 Sarah Righetti gene: MBTPS1 was added
gene: MBTPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review,Literature
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392
Review for gene: MBTPS1 was set to AMBER
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature.
Sources: Expert Review, Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.47 TBX22 Sarah Righetti gene: TBX22 was added
gene: TBX22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, MIM #303400
Review for gene: TBX22 was set to RED
Added comment: Treatable condition. RED on phenotypic grounds.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.47 POLA1 Sarah Righetti reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220, Van Esch-O'Driscoll syndrome, MIM #301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.47 POLA1 Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.47 POLA1 Sarah Righetti changed review comment from: Immunodeficieny phenotype MIM#301220 has strong gene-disease association but is caused by a specific deep intronic variant that is not detectable by MM ES. See PMID: 27019227.

Van Esch-O'Driscoll syndrome MIM #30103, which is ID, is described in a single paper PMID 31006512. 5 families, 5 variants in 9 patients, AMBER for gene-disease association.; to: Immunodeficieny phenotype MIM#301220 has strong gene-disease association but is caused by a specific deep intronic variant that is not detectable by MM ES. PMID: 27019227.

Van Esch-O'Driscoll syndrome MIM #30103, which is ID, is described in a single paper PMID 31006512. 5 families, 5 variants in 9 patients, AMBER for gene-disease association.
Mackenzie's Mission_Reproductive Carrier Screening v0.47 POLA1 Sarah Righetti reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27019227; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM #301220, Van Esch-O'Driscoll syndrome, MIM #301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti reviewed gene: UPB1: Rating: RED; Mode of pathogenicity: None; Publications: 24526388; Phenotypes: Beta-ureidopropionase deficiency, MIM #613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti changed review comment from: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes. ; to: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes.
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti changed review comment from: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.; to: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes.
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti reviewed gene: UPB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Marked gene: ERBB3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Classified gene: ERBB3 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Added comment: Comment on list classification: Downgraded to Amber due to limited evidence and variable phenotypes described in literature.
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.46 SLC35A3 Seb Lunke Marked gene: SLC35A3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.46 SLC35A3 Seb Lunke Gene: slc35a3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.46 SLC35A3 Seb Lunke Publications for gene: SLC35A3 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.45 SLC35A3 Seb Lunke Phenotypes for gene: SLC35A3 were changed from ?Arthrogryposis, mental retardation, and seizures to Arthrogryposis, mental retardation, and seizures (MIM615553)
Mendeliome v0.5334 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Mendeliome v0.5334 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Mendeliome v0.5334 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, 229600
Mendeliome v0.5333 ALDOB Zornitza Stark Publications for gene: ALDOB were set to
Mendeliome v0.5332 ALDOB Zornitza Stark Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5331 ALDOB Elena Savva reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 3083321; Phenotypes: Fructose intolerance, hereditary, 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Liver Failure_Paediatric v1.0 Zornitza Stark promoted panel to version 1.0
Liver Failure_Paediatric v0.114 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Liver Failure_Paediatric v0.114 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.114 NOTCH2 Zornitza Stark Classified gene: NOTCH2 as Green List (high evidence)
Liver Failure_Paediatric v0.114 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.113 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2, MIM# 610205
Review for gene: NOTCH2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Liver Failure_Paediatric v0.112 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Liver Failure_Paediatric v0.112 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.112 ABCB4 Zornitza Stark Classified gene: ABCB4 as Green List (high evidence)
Liver Failure_Paediatric v0.112 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.111 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB4 were set to 17726488
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, MIM# 602347
Review for gene: ABCB4 was set to GREEN
Added comment: Well established gene disease association.
Sources: Expert list
Liver Failure_Paediatric v0.110 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Liver Failure_Paediatric v0.110 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.110 ABCB11 Zornitza Stark Classified gene: ABCB11 as Green List (high evidence)
Liver Failure_Paediatric v0.110 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.109 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 9806540
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, MIM# 601847
Review for gene: ABCB11 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Liver Failure_Paediatric v0.108 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Liver Failure_Paediatric v0.108 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.108 ATP8B1 Zornitza Stark Classified gene: ATP8B1 as Green List (high evidence)
Liver Failure_Paediatric v0.108 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.107 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8B1 were set to 15239083
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, MIM# 211600
Review for gene: ATP8B1 was set to GREEN
Added comment: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.
Sources: Expert list
Liver Failure_Paediatric v0.106 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Liver Failure_Paediatric v0.106 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.106 CPT2 Zornitza Stark Classified gene: CPT2 as Green List (high evidence)
Liver Failure_Paediatric v0.106 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.105 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 8651281; 1528846; 12410208
Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile, MIM# 600649
Review for gene: CPT2 was set to GREEN
Added comment: The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting.
Sources: Expert list
Liver Failure_Paediatric v0.104 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Liver Failure_Paediatric v0.104 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.104 CYP7B1 Zornitza Stark Classified gene: CYP7B1 as Green List (high evidence)
Liver Failure_Paediatric v0.104 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.103 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 9802883; 31337596; 21567895; 24658845
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, MIM# 613812
Review for gene: CYP7B1 was set to GREEN
Added comment: At least 4 unrelated families reported.
Sources: Expert list
Liver Failure_Paediatric v0.102 IARS Zornitza Stark Marked gene: IARS as ready
Liver Failure_Paediatric v0.102 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.102 IARS Zornitza Stark Classified gene: IARS as Green List (high evidence)
Liver Failure_Paediatric v0.102 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.101 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 27426735; 27891590
Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093
Review for gene: IARS was set to GREEN
Added comment: GRIDHH is an autosomal recessive multisystem disorder characterized by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Four unrelated families reported and a zebrafish model.
Sources: Expert list
Liver Failure_Paediatric v0.100 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Liver Failure_Paediatric v0.100 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.100 TTC37 Zornitza Stark Classified gene: TTC37 as Green List (high evidence)
Liver Failure_Paediatric v0.100 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.99 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC37 were set to 17318842; 20176027
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, MIM# 222470
Review for gene: TTC37 was set to GREEN
Added comment: Clinical features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients, cirrhosis reported.

More than 20 unrelated families reported.
Sources: Expert list
Liver Failure_Paediatric v0.98 HSD3B7 Zornitza Stark Marked gene: HSD3B7 as ready
Liver Failure_Paediatric v0.98 HSD3B7 Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.98 HSD3B7 Zornitza Stark Classified gene: HSD3B7 as Green List (high evidence)
Liver Failure_Paediatric v0.98 HSD3B7 Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.97 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B7 were set to 12679481; 11067870
Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, MIM# 607765
Review for gene: HSD3B7 was set to GREEN
Added comment: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most individuals show spontaneous improvement by 1 year of age. However, some may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease.

More than 10 unrelated families reported.
Sources: Expert list
Liver Failure_Paediatric v0.96 CCDC115 Zornitza Stark Marked gene: CCDC115 as ready
Liver Failure_Paediatric v0.96 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.96 CCDC115 Zornitza Stark Classified gene: CCDC115 as Green List (high evidence)
Liver Failure_Paediatric v0.96 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.95 CCDC115 Zornitza Stark gene: CCDC115 was added
gene: CCDC115 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC115 were set to 26833332; 29759592
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, MIM# 616828
Review for gene: CCDC115 was set to GREEN
Added comment: Autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect.
Sources: Expert list
Mendeliome v0.5331 ITFG2 Zornitza Stark Publications for gene: ITFG2 were set to 28397838; https://doi.org/10.1038/s41525-020-00150-z
Mendeliome v0.5330 ITFG2 Zornitza Stark edited their review of gene: ITFG2: Changed publications: 28397838, 33083013
Intellectual disability syndromic and non-syndromic v0.3178 ITFG2 Zornitza Stark Publications for gene: ITFG2 were set to 28397838; https://doi.org/10.1038/s41525-020-00150-z
Intellectual disability syndromic and non-syndromic v0.3177 ITFG2 Zornitza Stark edited their review of gene: ITFG2: Changed rating: AMBER; Changed publications: 33083013; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5330 MYO1A Zornitza Stark Marked gene: MYO1A as ready
Mendeliome v0.5330 MYO1A Zornitza Stark Gene: myo1a has been classified as Red List (Low Evidence).
Mendeliome v0.5330 MYO1A Zornitza Stark Classified gene: MYO1A as Red List (low evidence)
Mendeliome v0.5330 MYO1A Zornitza Stark Gene: myo1a has been classified as Red List (Low Evidence).
Mendeliome v0.5329 MYO1A Zornitza Stark reviewed gene: MYO1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.116 Bryony Thompson Panel name changed from Motor Neuron Disease to Motor Neurone Disease
Hyperinsulinism v0.29 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.5329 ARL2 Zornitza Stark Marked gene: ARL2 as ready
Mendeliome v0.5329 ARL2 Zornitza Stark Gene: arl2 has been classified as Red List (Low Evidence).
Mendeliome v0.5329 ARL2 Zornitza Stark gene: ARL2 was added
gene: ARL2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARL2 were set to 30945270
Phenotypes for gene: ARL2 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082
Review for gene: ARL2 was set to RED
Added comment: Single family reported, missense variant segregating with structural eye abnormalities in 4 individuals (father and three daughters).
Sources: Expert list
Cataract v0.240 ARL2 Zornitza Stark Marked gene: ARL2 as ready
Cataract v0.240 ARL2 Zornitza Stark Gene: arl2 has been classified as Red List (Low Evidence).
Cataract v0.240 ARL2 Zornitza Stark gene: ARL2 was added
gene: ARL2 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: ARL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARL2 were set to 30945270
Phenotypes for gene: ARL2 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082
Review for gene: ARL2 was set to RED
Added comment: Single family reported, missense variant segregating with structural eye abnormalities in 4 individuals (father and three daughters).
Sources: Expert list
Arthrogryposis v0.243 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, MIM# 161200 to Nail-patella syndrome, MIM# 161200, MONDO:0008061
Arthrogryposis v0.242 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome, MIM# 161200, MONDO:0008061
Arthrogryposis v0.242 LMX1B Zornitza Stark changed review comment from: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy). >300 families reported.; to: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. >300 families reported.
Arthrogryposis v0.242 LMX1B Zornitza Stark edited their review of gene: LMX1B: Added comment: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy). >300 families reported.; Changed phenotypes: Nail-patella syndrome, MIM# 161200
Proteinuria v0.145 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Proteinuria v0.145 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Proteinuria v0.145 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy
Proteinuria v0.144 LMX1B Zornitza Stark Publications for gene: LMX1B were set to
Proteinuria v0.143 LMX1B Zornitza Stark Mode of inheritance for gene: LMX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.142 LMX1B Zornitza Stark reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27450397, 32457516; Phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5328 LMX1B Zornitza Stark Publications for gene: LMX1B were set to 27450397
Mendeliome v0.5327 LMX1B Zornitza Stark commented on gene: LMX1B: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy).

>300 families reported.
Mendeliome v0.5327 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed publications: 27450397, 32457516
Mendeliome v0.5327 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200); LMX1B-related nephropathy to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy
Mendeliome v0.5326 LMX1B Zornitza Stark reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.496 UNC80 Zornitza Stark Phenotypes for gene: UNC80 were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777
Microcephaly v0.495 UNC80 Zornitza Stark reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.154 UNC80 Zornitza Stark Phenotypes for gene: UNC80 were changed from hypotonia; severe intellectual disability; dyskinesia; dysmorphism to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777
Dystonia and Chorea v0.153 UNC80 Zornitza Stark reviewed gene: UNC80: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.898 UNC80 Zornitza Stark Marked gene: UNC80 as ready
Genetic Epilepsy v0.898 UNC80 Zornitza Stark Gene: unc80 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.898 UNC80 Zornitza Stark Phenotypes for gene: UNC80 were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777
Genetic Epilepsy v0.897 UNC80 Zornitza Stark Publications for gene: UNC80 were set to
Genetic Epilepsy v0.896 UNC80 Zornitza Stark Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.895 UNC80 Zornitza Stark commented on gene: UNC80: UNC80 is part of the NALCN complex, and this is considered a NALCN channelopathy.

More than 20 individuals from more than 5 unrelated families reported with bi-allelic variants in this gene and severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some have had seizures; brain structure is typically normal.

UNC80 knockout mice are neonatal lethal.
Genetic Epilepsy v0.895 UNC80 Zornitza Stark reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708751, 26708753, 26545877, 32620897, 30167850, 30167850; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3177 UNC80 Zornitza Stark Marked gene: UNC80 as ready
Intellectual disability syndromic and non-syndromic v0.3177 UNC80 Zornitza Stark Gene: unc80 has been classified as Green List (High Evidence).
Mendeliome v0.5326 UNC80 Zornitza Stark Marked gene: UNC80 as ready
Mendeliome v0.5326 UNC80 Zornitza Stark Gene: unc80 has been classified as Green List (High Evidence).
Mendeliome v0.5326 UNC80 Zornitza Stark Phenotypes for gene: UNC80 were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777
Mendeliome v0.5325 UNC80 Zornitza Stark Publications for gene: UNC80 were set to
Mendeliome v0.5324 UNC80 Zornitza Stark Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3177 UNC80 Zornitza Stark Phenotypes for gene: UNC80 were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777
Mendeliome v0.5323 UNC80 Zornitza Stark reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708751, 26708753, 26545877, 32620897, 30167850, 30167850; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3176 UNC80 Zornitza Stark Publications for gene: UNC80 were set to 26708751; 26708753; 26545877; 32620897; 30167850; 30167850
Intellectual disability syndromic and non-syndromic v0.3176 UNC80 Zornitza Stark Publications for gene: UNC80 were set to
Intellectual disability syndromic and non-syndromic v0.3175 UNC80 Zornitza Stark edited their review of gene: UNC80: Changed phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777
Intellectual disability syndromic and non-syndromic v0.3175 UNC80 Zornitza Stark Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3174 UNC80 Zornitza Stark reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708751, 26708753, 26545877, 32620897, 30167850, 30167850; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5323 ZFHX4 Zornitza Stark Tag SV/CNV tag was added to gene: ZFHX4.
Intellectual disability syndromic and non-syndromic v0.3174 ZFHX4 Zornitza Stark Tag SV/CNV tag was added to gene: ZFHX4.
Mendeliome v0.5323 ZFHX4 Zornitza Stark Classified gene: ZFHX4 as Green List (high evidence)
Mendeliome v0.5323 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence).
Mendeliome v0.5322 ZFHX4 Zornitza Stark reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802062; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3174 ZFHX4 Zornitza Stark Classified gene: ZFHX4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3174 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3173 ZFHX4 Zornitza Stark gene: ZFHX4 was added
gene: ZFHX4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX4 were set to 33057194; 24038936; 21802062
Phenotypes for gene: ZFHX4 were set to Developmental disorders; intellectual disability, dysmorphic features
Review for gene: ZFHX4 was set to GREEN
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
PMID: 24038936 - a single case with developmental delay, macrocephaly, ventriculomegaly, hypermetropia, recurrent infections, dysmorphism and a de novo deletion of the last 7 exons of the gene.
PMID:21802062 (2011) report 8 individuals with ID and overlapping deletions of 8q21.11 (0.66-13.55 Mb in size); the smallest region of overlap encompasses 3 genes including ZFHX4.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3172 UPF1 Zornitza Stark Marked gene: UPF1 as ready
Intellectual disability syndromic and non-syndromic v0.3172 UPF1 Zornitza Stark Gene: upf1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3172 UPF1 Zornitza Stark Classified gene: UPF1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3172 UPF1 Zornitza Stark Gene: upf1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3171 UPF1 Zornitza Stark gene: UPF1 was added
gene: UPF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UPF1 were set to 33057194
Phenotypes for gene: UPF1 were set to Developmental disorders
Review for gene: UPF1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (1 frameshift, 11 missense, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3170 U2AF2 Zornitza Stark Marked gene: U2AF2 as ready
Intellectual disability syndromic and non-syndromic v0.3170 U2AF2 Zornitza Stark Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3170 U2AF2 Zornitza Stark Classified gene: U2AF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3170 U2AF2 Zornitza Stark Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3169 U2AF2 Zornitza Stark gene: U2AF2 was added
gene: U2AF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: U2AF2 were set to 33057194
Phenotypes for gene: U2AF2 were set to Developmental disorders
Review for gene: U2AF2 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 8 missense, 1 synoymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3168 TCF7L2 Zornitza Stark Marked gene: TCF7L2 as ready
Intellectual disability syndromic and non-syndromic v0.3168 TCF7L2 Zornitza Stark Gene: tcf7l2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3168 TCF7L2 Zornitza Stark Classified gene: TCF7L2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3168 TCF7L2 Zornitza Stark Gene: tcf7l2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3167 TCF7L2 Zornitza Stark gene: TCF7L2 was added
gene: TCF7L2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TCF7L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCF7L2 were set to 33057194
Phenotypes for gene: TCF7L2 were set to Developmental disorders
Review for gene: TCF7L2 was set to AMBER
Added comment: A diabetes susceptibility locus associated with common SNVs, see OMIM for details.

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 12 de novo variants (2 frameshift, 6 missense, 1 splice acceptor, 2 stopgain, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3166 SRRM2 Zornitza Stark Marked gene: SRRM2 as ready
Intellectual disability syndromic and non-syndromic v0.3166 SRRM2 Zornitza Stark Gene: srrm2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3166 SRRM2 Zornitza Stark Classified gene: SRRM2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3166 SRRM2 Zornitza Stark Gene: srrm2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3165 SRRM2 Zornitza Stark gene: SRRM2 was added
gene: SRRM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRRM2 were set to 33057194
Phenotypes for gene: SRRM2 were set to Developmental disorders
Review for gene: SRRM2 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 28 de novo variants (11 frameshift, 7 missense, 1 splice acceptor, 5 stopgain, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3164 SPEN Zornitza Stark Marked gene: SPEN as ready
Intellectual disability syndromic and non-syndromic v0.3164 SPEN Zornitza Stark Gene: spen has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3164 SPEN Zornitza Stark Classified gene: SPEN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3164 SPEN Zornitza Stark Gene: spen has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3163 SPEN Zornitza Stark gene: SPEN was added
gene: SPEN was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPEN were set to 33057194
Phenotypes for gene: SPEN were set to Developmental disorders
Review for gene: SPEN was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 25 de novo variants (6 frameshift, 1 in-frame, 7 missense, 8 stopgain, 3 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3162 SATB1 Zornitza Stark Marked gene: SATB1 as ready
Intellectual disability syndromic and non-syndromic v0.3162 SATB1 Zornitza Stark Gene: satb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3162 SATB1 Zornitza Stark Classified gene: SATB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3162 SATB1 Zornitza Stark Gene: satb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3161 SATB1 Zornitza Stark gene: SATB1 was added
gene: SATB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SATB1 were set to 33057194
Phenotypes for gene: SATB1 were set to Developmental disorders
Review for gene: SATB1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 12 de novo (2 frameshift, 7 missense, 1 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3160 RAB14 Zornitza Stark Marked gene: RAB14 as ready
Intellectual disability syndromic and non-syndromic v0.3160 RAB14 Zornitza Stark Gene: rab14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3160 RAB14 Zornitza Stark Classified gene: RAB14 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3160 RAB14 Zornitza Stark Gene: rab14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3159 RAB14 Zornitza Stark gene: RAB14 was added
gene: RAB14 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB14 were set to 33057194
Phenotypes for gene: RAB14 were set to Developmental disorders
Review for gene: RAB14 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (1 in-frame, 7 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3158 PSMC5 Zornitza Stark Marked gene: PSMC5 as ready
Intellectual disability syndromic and non-syndromic v0.3158 PSMC5 Zornitza Stark Gene: psmc5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3158 PSMC5 Zornitza Stark Classified gene: PSMC5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3158 PSMC5 Zornitza Stark Gene: psmc5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3157 PSMC5 Zornitza Stark gene: PSMC5 was added
gene: PSMC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMC5 were set to 33057194
Phenotypes for gene: PSMC5 were set to Developmental disorders
Review for gene: PSMC5 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 9 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3156 MSL2 Zornitza Stark Marked gene: MSL2 as ready
Intellectual disability syndromic and non-syndromic v0.3156 MSL2 Zornitza Stark Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3156 MSL2 Zornitza Stark Classified gene: MSL2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3156 MSL2 Zornitza Stark Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3155 MSL2 Zornitza Stark gene: MSL2 was added
gene: MSL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MSL2 were set to 31332282; 33057194
Phenotypes for gene: MSL2 were set to Developmental disorders; autism
Review for gene: MSL2 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 13 de novo variants (9 frameshift, 4 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
PMID: 31332282 - candidate gene in a single autism study, with recurrent de novo variants in a potential oligogenic model
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3154 MMGT1 Zornitza Stark Marked gene: MMGT1 as ready
Intellectual disability syndromic and non-syndromic v0.3154 MMGT1 Zornitza Stark Gene: mmgt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3154 MMGT1 Zornitza Stark Classified gene: MMGT1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3154 MMGT1 Zornitza Stark Gene: mmgt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3153 MMGT1 Zornitza Stark gene: MMGT1 was added
gene: MMGT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MMGT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MMGT1 were set to 33057194
Phenotypes for gene: MMGT1 were set to Developmental disorders
Review for gene: MMGT1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 3 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3152 HNRNPD Zornitza Stark Marked gene: HNRNPD as ready
Intellectual disability syndromic and non-syndromic v0.3152 HNRNPD Zornitza Stark Gene: hnrnpd has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3152 HNRNPD Zornitza Stark Classified gene: HNRNPD as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3152 HNRNPD Zornitza Stark Gene: hnrnpd has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3151 HNRNPD Zornitza Stark gene: HNRNPD was added
gene: HNRNPD was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HNRNPD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPD were set to 33057194
Phenotypes for gene: HNRNPD were set to Developmental disorders
Review for gene: HNRNPD was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (5 frameshift, 1 missense, 1 splice acceptor, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3150 GIGYF1 Zornitza Stark Marked gene: GIGYF1 as ready
Intellectual disability syndromic and non-syndromic v0.3150 GIGYF1 Zornitza Stark Gene: gigyf1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3150 GIGYF1 Zornitza Stark Classified gene: GIGYF1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3150 GIGYF1 Zornitza Stark Gene: gigyf1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3149 GIGYF1 Zornitza Stark gene: GIGYF1 was added
gene: GIGYF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GIGYF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GIGYF1 were set to 33057194
Phenotypes for gene: GIGYF1 were set to Developmental disorder
Review for gene: GIGYF1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 14 de novo variants (4 frameshift, 5 missense, 1 splice donor, 3 stopgain, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating).
Sources: Literature
Early-onset Dementia v0.127 STUB1 Bryony Thompson Classified gene: STUB1 as Green List (high evidence)
Early-onset Dementia v0.127 STUB1 Bryony Thompson Gene: stub1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.126 STUB1 Bryony Thompson edited their review of gene: STUB1: Changed phenotypes: Spinocerebellar ataxia 48 MIM#618093, cognitive impairment, Spinocerebellar ataxia, autosomal recessive 16 MIM#615768; Set current diagnostic: yes
Early-onset Dementia v0.126 STUB1 Bryony Thompson gene: STUB1 was added
gene: STUB1 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: STUB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STUB1 were set to 32713943
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia 48 MIM#618093; cognitive impairment; Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
Review for gene: STUB1 was set to GREEN
Added comment: Cognitive impairment can be a feature of conditions caused by this gene. Cognitive impairment, mostly dysexecutive, was observed and sometimes predominant in 54% (26/48) of cases with dominant (mainly) or recessive ataxia and pathogenic variants in STUB1. No STUB1 variants were found in 115 patients with FTD.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3148 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Intellectual disability syndromic and non-syndromic v0.3148 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3148 AP2S1 Zornitza Stark Classified gene: AP2S1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3148 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3147 AP2S1 Zornitza Stark gene: AP2S1 was added
gene: AP2S1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to 33057194
Phenotypes for gene: AP2S1 were set to Developmental disorder
Review for gene: AP2S1 was set to AMBER
Added comment: Established hypercalcaemia gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 5 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating).
Sources: Literature
Mendeliome v0.5322 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to
Intellectual disability syndromic and non-syndromic v0.3146 ARHGAP35 Zornitza Stark Marked gene: ARHGAP35 as ready
Intellectual disability syndromic and non-syndromic v0.3146 ARHGAP35 Zornitza Stark Gene: arhgap35 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5321 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Mendeliome v0.5321 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Mendeliome v0.5321 AP2S1 Zornitza Stark Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III MIM#600740 to Hypocalciuric hypercalcemia, type III MIM#600740; Developmental disorder
Intellectual disability syndromic and non-syndromic v0.3146 ARHGAP35 Zornitza Stark Classified gene: ARHGAP35 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3146 ARHGAP35 Zornitza Stark Gene: arhgap35 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3145 ARHGAP35 Zornitza Stark gene: ARHGAP35 was added
gene: ARHGAP35 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to 33057194
Phenotypes for gene: ARHGAP35 were set to Developmental disorder
Review for gene: ARHGAP35 was set to AMBER
Added comment: Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 16 de novo variants (3 frameshift, 2 in-frame, 10 missense, 1 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3144 ATP6V0A1 Zornitza Stark Marked gene: ATP6V0A1 as ready
Intellectual disability syndromic and non-syndromic v0.3144 ATP6V0A1 Zornitza Stark Gene: atp6v0a1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3144 ATP6V0A1 Zornitza Stark Classified gene: ATP6V0A1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3144 ATP6V0A1 Zornitza Stark Gene: atp6v0a1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3143 ATP6V0A1 Zornitza Stark gene: ATP6V0A1 was added
gene: ATP6V0A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP6V0A1 were set to 30842224; 33057194
Phenotypes for gene: ATP6V0A1 were set to Developmental disorder; Rett syndrome-like
Review for gene: ATP6V0A1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 11 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating).
PMID: 30842224 - identified a de novo missense variant in a single individual with atypical Rett syndrome phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3142 DDX23 Zornitza Stark Marked gene: DDX23 as ready
Intellectual disability syndromic and non-syndromic v0.3142 DDX23 Zornitza Stark Gene: ddx23 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3142 DDX23 Zornitza Stark Classified gene: DDX23 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3142 DDX23 Zornitza Stark Gene: ddx23 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3141 DDX23 Zornitza Stark gene: DDX23 was added
gene: DDX23 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX23 were set to 33057194
Phenotypes for gene: DDX23 were set to Developmental disorder
Review for gene: DDX23 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 6 de novo missense identified in ~10,000 cases with developmental disorders. Rated Amber as no other phenotype info provided.
Sources: Literature
Mendeliome v0.5320 CARD8 Zornitza Stark Marked gene: CARD8 as ready
Mendeliome v0.5320 CARD8 Zornitza Stark Gene: card8 has been classified as Red List (Low Evidence).
Mendeliome v0.5320 CARD8 Zornitza Stark gene: CARD8 was added
gene: CARD8 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CARD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CARD8 were set to 29408806
Phenotypes for gene: CARD8 were set to Inflammatory bowel disease-30, MIM#619079
Review for gene: CARD8 was set to RED
Added comment: Two individuals from one family reported segregating a missense variant, dominant negative effect postulated.
Sources: Expert list
Inflammatory bowel disease v0.35 CARD8 Zornitza Stark Marked gene: CARD8 as ready
Inflammatory bowel disease v0.35 CARD8 Zornitza Stark Gene: card8 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.35 CARD8 Zornitza Stark gene: CARD8 was added
gene: CARD8 was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: CARD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CARD8 were set to 29408806
Phenotypes for gene: CARD8 were set to Inflammatory bowel disease-30, MIM#619079
Review for gene: CARD8 was set to RED
Added comment: Two individuals from one family reported segregating a missense variant, dominant negative effect postulated.
Sources: Expert list
Liver Failure_Paediatric v0.94 AMACR Zornitza Stark changed review comment from: Intrahepatic cholestasis and liver failure in infancy.
Sources: Expert list; to: Intrahepatic cholestasis and liver failure in infancy, at least three families and mouse model.
Sources: Expert list
Liver Failure_Paediatric v0.94 AMACR Zornitza Stark Marked gene: AMACR as ready
Liver Failure_Paediatric v0.94 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.94 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Liver Failure_Paediatric v0.94 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.93 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 31951345; 24735479; 12512044; 10655068
Phenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4, MIM# 214950
Review for gene: AMACR was set to GREEN
Added comment: Intrahepatic cholestasis and liver failure in infancy.
Sources: Expert list
Liver Failure_Paediatric v0.92 HADHB Zornitza Stark Marked gene: HADHB as ready
Liver Failure_Paediatric v0.92 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.92 HADHB Zornitza Stark Classified gene: HADHB as Green List (high evidence)
Liver Failure_Paediatric v0.92 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.91 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, MIM# 609015
Review for gene: HADHB was set to GREEN
Added comment: 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.
Sources: Expert list
Liver Failure_Paediatric v0.90 HADHA Zornitza Stark Marked gene: HADHA as ready
Liver Failure_Paediatric v0.90 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.90 HADHA Zornitza Stark Classified gene: HADHA as Green List (high evidence)
Liver Failure_Paediatric v0.90 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.89 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM# 609015
Review for gene: HADHA was set to GREEN
Added comment: 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.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.44 UGT1A1 Sarah Righetti commented on gene: UGT1A1
Mendeliome v0.5319 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Autoinflammatory disease, adult onset: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
Mendeliome v0.5318 UBA1 Zornitza Stark Publications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311
Mendeliome v0.5317 UBA1 Zornitza Stark edited their review of gene: UBA1: Added comment: Association with VEXAS: 25 men reported with somatic mutations affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation, and an often fatal, treatment-refractory inflammatory syndrome develops in late adulthood, with fevers, cytopaenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis.; Changed publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311, 33108101; Changed phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830, Autoinflammatory disease, adult onset: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark edited their review of gene: UBA1: Changed publications: 33108101
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Marked gene: UBA1 as ready
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Gene: uba1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Tag somatic tag was added to gene: UBA1.
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Classified gene: UBA1 as Green List (high evidence)
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Gene: uba1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.95 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: UBA1 was set to Other
Phenotypes for gene: UBA1 were set to Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
Review for gene: UBA1 was set to GREEN
Added comment: 25 men reported with somatic mutations affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation, and an often fatal, treatment-refractory inflammatory syndrome develops in late adulthood, with fevers, cytopaenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis.
Sources: Literature
Liver Failure_Paediatric v0.88 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Liver Failure_Paediatric v0.88 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.88 GBE1 Zornitza Stark Classified gene: GBE1 as Green List (high evidence)
Liver Failure_Paediatric v0.88 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.87 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, MIM# 232500
Review for gene: GBE1 was set to GREEN
Added comment: Typically presents with liver disease in childhood, progressing to cirrhosis.
Sources: Expert list
Liver Failure_Paediatric v0.86 MRM2 Zornitza Stark Marked gene: MRM2 as ready
Liver Failure_Paediatric v0.86 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.86 MRM2 Zornitza Stark Classified gene: MRM2 as Amber List (moderate evidence)
Liver Failure_Paediatric v0.86 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.85 MRM2 Zornitza Stark gene: MRM2 was added
gene: MRM2 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to Mitochondrial DNA depletion syndrome 17, MIM# 618567
Review for gene: MRM2 was set to AMBER
Added comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA.

Recurrent episodes of liver failure were part of the clinical course.
Sources: Expert list
Liver Failure_Paediatric v0.84 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Liver Failure_Paediatric v0.84 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.84 ALMS1 Zornitza Stark Classified gene: ALMS1 as Green List (high evidence)
Liver Failure_Paediatric v0.84 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.83 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALMS1 were set to 25296579
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, MIM# 203800
Review for gene: ALMS1 was set to GREEN
Added comment: Autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age.

Chronic active hepatitis, hepatomegaly, steatosis, and cirrhosis all reported.
Sources: Expert list
Liver Failure_Paediatric v0.82 CYC1 Zornitza Stark Marked gene: CYC1 as ready
Liver Failure_Paediatric v0.82 CYC1 Zornitza Stark Gene: cyc1 has been classified as Red List (Low Evidence).
Liver Failure_Paediatric v0.82 CYC1 Zornitza Stark gene: CYC1 was added
gene: CYC1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYC1 were set to 23910460
Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453
Review for gene: CYC1 was set to RED
Added comment: Two families reported, of these episodes of acute liver failure reported in one proband.
Sources: Expert list
Mendeliome v0.5317 ZFHX4 Bryony Thompson Marked gene: ZFHX4 as ready
Mendeliome v0.5317 ZFHX4 Bryony Thompson Gene: zfhx4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5317 ZFHX4 Bryony Thompson Publications for gene: ZFHX4 were set to 33057194
Mendeliome v0.5316 ZFHX4 Bryony Thompson Classified gene: ZFHX4 as Amber List (moderate evidence)
Mendeliome v0.5316 ZFHX4 Bryony Thompson Gene: zfhx4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5315 ZFHX4 Bryony Thompson edited their review of gene: ZFHX4: Changed publications: 33057194, 24038936
Mendeliome v0.5315 ZFHX4 Bryony Thompson changed review comment from: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature; to: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
PMID: 24038936 - a single case with developmental delay, macrocephaly, ventriculomegaly, hypermetropia, recurrent
infections, dysmorphism and a de novo deletion of the last 7 exons of the gene.
Sources: Literature
Mendeliome v0.5315 ZFHX4 Bryony Thompson edited their review of gene: ZFHX4: Changed phenotypes: Developmental disorders, intellectual disability, dysmorphic features
Mendeliome v0.5315 ZFHX4 Bryony Thompson edited their review of gene: ZFHX4: Changed rating: AMBER
Mendeliome v0.5315 ZFHX4 Bryony Thompson gene: ZFHX4 was added
gene: ZFHX4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX4 were set to 33057194
Phenotypes for gene: ZFHX4 were set to Developmental disorders
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5314 UPF1 Bryony Thompson Marked gene: UPF1 as ready
Mendeliome v0.5314 UPF1 Bryony Thompson Gene: upf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5314 UPF1 Bryony Thompson Classified gene: UPF1 as Amber List (moderate evidence)
Mendeliome v0.5314 UPF1 Bryony Thompson Gene: upf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5313 UPF1 Bryony Thompson gene: UPF1 was added
gene: UPF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UPF1 were set to 33057194
Phenotypes for gene: UPF1 were set to Developmental disorders
Review for gene: UPF1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (1 frameshift, 11 missense, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5312 U2AF2 Bryony Thompson Classified gene: U2AF2 as Amber List (moderate evidence)
Mendeliome v0.5312 U2AF2 Bryony Thompson Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5311 U2AF2 Bryony Thompson gene: U2AF2 was added
gene: U2AF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: U2AF2 were set to 33057194
Phenotypes for gene: U2AF2 were set to Developmental disorders
Review for gene: U2AF2 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 8 missense, 1 synoymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5310 TFE3 Bryony Thompson Publications for gene: TFE3 were set to 30595499; 31833172
Mendeliome v0.5309 TCF7L2 Bryony Thompson Marked gene: TCF7L2 as ready
Mendeliome v0.5309 TCF7L2 Bryony Thompson Gene: tcf7l2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5309 TCF7L2 Bryony Thompson Phenotypes for gene: TCF7L2 were changed from to Developmental disorders
Mendeliome v0.5308 TCF7L2 Bryony Thompson Publications for gene: TCF7L2 were set to
Mendeliome v0.5307 TCF7L2 Bryony Thompson Mode of inheritance for gene: TCF7L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5306 TCF7L2 Bryony Thompson Classified gene: TCF7L2 as Amber List (moderate evidence)
Mendeliome v0.5306 TCF7L2 Bryony Thompson Gene: tcf7l2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5305 TCF7L2 Bryony Thompson reviewed gene: TCF7L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33057194; Phenotypes: Developmental disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5305 SRRM2 Bryony Thompson Marked gene: SRRM2 as ready
Mendeliome v0.5305 SRRM2 Bryony Thompson Gene: srrm2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5305 SRRM2 Bryony Thompson Classified gene: SRRM2 as Amber List (moderate evidence)
Mendeliome v0.5305 SRRM2 Bryony Thompson Gene: srrm2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5304 SRRM2 Bryony Thompson gene: SRRM2 was added
gene: SRRM2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRRM2 were set to 33057194
Phenotypes for gene: SRRM2 were set to Developmental disorders
Review for gene: SRRM2 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 28 de novo variants (11 frameshift, 7 missense, 1 splice acceptor, 5 stopgain, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5303 SPEN Bryony Thompson Marked gene: SPEN as ready
Mendeliome v0.5303 SPEN Bryony Thompson Gene: spen has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5303 SPEN Bryony Thompson Classified gene: SPEN as Amber List (moderate evidence)
Mendeliome v0.5303 SPEN Bryony Thompson Gene: spen has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5302 SPEN Bryony Thompson gene: SPEN was added
gene: SPEN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPEN were set to 33057194
Phenotypes for gene: SPEN were set to Developmental disorders
Review for gene: SPEN was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 25 de novo variants (6 frameshift, 1 in-frame, 7 missense, 8 stopgain, 3 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5301 SATB1 Bryony Thompson Marked gene: SATB1 as ready
Mendeliome v0.5301 SATB1 Bryony Thompson Gene: satb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5301 SATB1 Bryony Thompson Classified gene: SATB1 as Amber List (moderate evidence)
Mendeliome v0.5301 SATB1 Bryony Thompson Gene: satb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5300 SATB1 Bryony Thompson gene: SATB1 was added
gene: SATB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SATB1 were set to 33057194
Phenotypes for gene: SATB1 were set to Developmental disorders
Review for gene: SATB1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 12 de novo (2 frameshift, 7 missense, 1 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5299 RAB14 Bryony Thompson Marked gene: RAB14 as ready
Mendeliome v0.5299 RAB14 Bryony Thompson Gene: rab14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5299 RAB14 Bryony Thompson Classified gene: RAB14 as Amber List (moderate evidence)
Mendeliome v0.5299 RAB14 Bryony Thompson Gene: rab14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5298 RAB14 Bryony Thompson gene: RAB14 was added
gene: RAB14 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB14 were set to 33057194
Phenotypes for gene: RAB14 were set to Developmental disorders
Review for gene: RAB14 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (1 in-frame, 7 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5297 PSMC5 Bryony Thompson Marked gene: PSMC5 as ready
Mendeliome v0.5297 PSMC5 Bryony Thompson Gene: psmc5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5297 PSMC5 Bryony Thompson Classified gene: PSMC5 as Amber List (moderate evidence)
Mendeliome v0.5297 PSMC5 Bryony Thompson Gene: psmc5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5296 PSMC5 Bryony Thompson gene: PSMC5 was added
gene: PSMC5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMC5 were set to 33057194
Phenotypes for gene: PSMC5 were set to Developmental disorders
Review for gene: PSMC5 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 9 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5295 PRPF8 Bryony Thompson Marked gene: PRPF8 as ready
Mendeliome v0.5295 PRPF8 Bryony Thompson Gene: prpf8 has been classified as Green List (High Evidence).
Mendeliome v0.5295 PRPF8 Bryony Thompson Added comment: Comment on phenotypes: Established Retinitis pigmentosa gene.
PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 29 de novo variants (2 frameshift, 19 missense, 1 stopgain, 7 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Mendeliome v0.5295 PRPF8 Bryony Thompson Phenotypes for gene: PRPF8 were changed from to Retinitis pigmentosa 13, MIM#600059
Mendeliome v0.5294 PRPF8 Bryony Thompson Publications for gene: PRPF8 were set to
Mendeliome v0.5293 PRPF8 Bryony Thompson Mode of inheritance for gene: PRPF8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5292 MSL2 Bryony Thompson Marked gene: MSL2 as ready
Mendeliome v0.5292 MSL2 Bryony Thompson Gene: msl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5292 MSL2 Bryony Thompson Classified gene: MSL2 as Amber List (moderate evidence)
Mendeliome v0.5292 MSL2 Bryony Thompson Gene: msl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5291 PRKAR1B Bryony Thompson Publications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 25414040
Mendeliome v0.5290 MSL2 Bryony Thompson gene: MSL2 was added
gene: MSL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MSL2 were set to 31332282; 33057194
Phenotypes for gene: MSL2 were set to Developmental disorders; autism
Review for gene: MSL2 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 13 de novo variants (9 frameshift, 4 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
PMID: 31332282 - candidate gene in a single autism study, with recurrent de novo variants in a potential oligogenic model
Sources: Literature
Mendeliome v0.5289 MMGT1 Bryony Thompson Classified gene: MMGT1 as Amber List (moderate evidence)
Mendeliome v0.5289 MMGT1 Bryony Thompson Gene: mmgt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5288 MMGT1 Bryony Thompson gene: MMGT1 was added
gene: MMGT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MMGT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MMGT1 were set to 33057194
Phenotypes for gene: MMGT1 were set to Developmental disorders
Review for gene: MMGT1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 3 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5287 MIB1 Bryony Thompson Publications for gene: MIB1 were set to
Mendeliome v0.5286 MIB1 Bryony Thompson Added comment: Comment on phenotypes: Established congenital cardiac disease gene.
PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Mendeliome v0.5286 MIB1 Bryony Thompson Phenotypes for gene: MIB1 were changed from to Left ventricular noncompaction 7 MIM#615092
Mendeliome v0.5285 MIB1 Bryony Thompson Mode of inheritance for gene: MIB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5284 MFN2 Bryony Thompson Added comment: Comment on phenotypes: Established cause of hereditary neuropathy.
PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 9 de novo variants (8 missense, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Mendeliome v0.5284 MFN2 Bryony Thompson Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152
Mendeliome v0.5283 MFN2 Bryony Thompson Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5282 KCNK3 Bryony Thompson Added comment: Comment on phenotypes: Established pulmonary hypertension gene.
PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (7 missense, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Mendeliome v0.5282 KCNK3 Bryony Thompson Phenotypes for gene: KCNK3 were changed from to Pulmonary hypertension, primary, 4 MIM#615344
Mendeliome v0.5281 KCNK3 Bryony Thompson Mode of inheritance for gene: KCNK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5280 HNRNPD Bryony Thompson Marked gene: HNRNPD as ready
Mendeliome v0.5280 HNRNPD Bryony Thompson Gene: hnrnpd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5280 HNRNPD Bryony Thompson Classified gene: HNRNPD as Amber List (moderate evidence)
Mendeliome v0.5280 HNRNPD Bryony Thompson Gene: hnrnpd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5279 HNRNPD Bryony Thompson gene: HNRNPD was added
gene: HNRNPD was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HNRNPD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPD were set to 33057194
Phenotypes for gene: HNRNPD were set to Developmental disorders
Review for gene: HNRNPD was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (5 frameshift, 1 missense, 1 splice acceptor, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5278 H3F3A Bryony Thompson reviewed gene: H3F3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 33057194, 31942419; Phenotypes: Developmental disorders, intellectual disability, microcephaly, severe developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.187 TJP2 Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.186 TJP2 Zornitza Stark reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 25921221, 31696999; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Liver Failure_Paediatric v0.81 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Liver Failure_Paediatric v0.81 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.81 TJP2 Zornitza Stark Classified gene: TJP2 as Green List (high evidence)
Liver Failure_Paediatric v0.81 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.80 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TJP2 were set to 24614073; 25921221; 31696999
Phenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Review for gene: TJP2 was set to GREEN
Added comment: Early childhood onset of severe progressive liver disease. At leat 20 unrelated families reported.
Sources: Expert list
Congenital Disorders of Glycosylation v0.182 ATP6AP2 Zornitza Stark Marked gene: ATP6AP2 as ready
Congenital Disorders of Glycosylation v0.182 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.182 ATP6AP2 Zornitza Stark Classified gene: ATP6AP2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.182 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.181 ATP6AP2 Zornitza Stark gene: ATP6AP2 was added
gene: ATP6AP2 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: ATP6AP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6AP2 were set to 29127204; 29388887
Phenotypes for gene: ATP6AP2 were set to Congenital disorder of glycosylation, type IIr, MIM# 301045
Review for gene: ATP6AP2 was set to GREEN
Added comment: Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some individuals may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern.

Two unrelated families and functional data support gene-disease association. Note gene has also been associated with two other OMIM phenotypes, 300423 and 300911, comprising ID, parkinsonism and spasticity. Unclear whether all of these represent a spectrum of CDG.
Sources: Expert list
Liver Failure_Paediatric v0.79 ATP6AP2 Zornitza Stark Marked gene: ATP6AP2 as ready
Liver Failure_Paediatric v0.79 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.79 ATP6AP2 Zornitza Stark Classified gene: ATP6AP2 as Green List (high evidence)
Liver Failure_Paediatric v0.79 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.78 ATP6AP2 Zornitza Stark edited their review of gene: ATP6AP2: Changed rating: GREEN; Changed phenotypes: Congenital disorder of glycosylation, type IIr, MIM# 301045
Liver Failure_Paediatric v0.78 ATP6AP2 Zornitza Stark gene: ATP6AP2 was added
gene: ATP6AP2 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP2 were set to 29127204; 29388887
Phenotypes for gene: ATP6AP2 were set to Congenital disorder of glycosylation, type IIr, MIM# 301045
Added comment: Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some individuals may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern.

Two unrelated families and functional data support gene-disease association.
Sources: Expert list
Skeletal dysplasia v0.61 PRKG2 Zornitza Stark Marked gene: PRKG2 as ready
Skeletal dysplasia v0.61 PRKG2 Zornitza Stark Gene: prkg2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.61 PRKG2 Zornitza Stark Classified gene: PRKG2 as Green List (high evidence)
Skeletal dysplasia v0.61 PRKG2 Zornitza Stark Gene: prkg2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.60 PRKG2 Zornitza Stark gene: PRKG2 was added
gene: PRKG2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKG2 were set to 33106379
Phenotypes for gene: PRKG2 were set to Acromesomelic dysplasia
Review for gene: PRKG2 was set to GREEN
Added comment: - PMID: 33106379 (2020) - Distinct homozygous variants in PRKG2 identified in two unrelated individuals, both with a skeletal dysplasia associated with severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones. Functional studies showed both variants result in NMD and disrupt the downstream MAPK signalling pathway in response to FGF2. The role of cGKII, encoded by PRKG2, in skeletal growth has been established in several animal models (references provided in paper).
Sources: Literature
Mendeliome v0.5278 PRKG2 Zornitza Stark Marked gene: PRKG2 as ready
Mendeliome v0.5278 PRKG2 Zornitza Stark Gene: prkg2 has been classified as Green List (High Evidence).
Mendeliome v0.5278 PRKG2 Zornitza Stark Classified gene: PRKG2 as Green List (high evidence)
Mendeliome v0.5278 PRKG2 Zornitza Stark Gene: prkg2 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.23 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Congenital ophthalmoplegia v0.23 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.23 SALL4 Zornitza Stark Classified gene: SALL4 as Green List (high evidence)
Congenital ophthalmoplegia v0.23 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.22 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Congenital ophthalmoplegia v0.22 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.22 ROBO3 Zornitza Stark Classified gene: ROBO3 as Green List (high evidence)
Congenital ophthalmoplegia v0.22 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.21 REV3L Zornitza Stark Marked gene: REV3L as ready
Congenital ophthalmoplegia v0.21 REV3L Zornitza Stark Gene: rev3l has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.21 REV3L Zornitza Stark Phenotypes for gene: REV3L were changed from möbius syndrome to Möbius syndrome
Congenital ophthalmoplegia v0.20 REV3L Zornitza Stark Classified gene: REV3L as Green List (high evidence)
Congenital ophthalmoplegia v0.20 REV3L Zornitza Stark Gene: rev3l has been classified as Green List (High Evidence).
Mendeliome v0.5277 PLXND1 Zornitza Stark Marked gene: PLXND1 as ready
Mendeliome v0.5277 PLXND1 Zornitza Stark Gene: plxnd1 has been classified as Green List (High Evidence).
Mendeliome v0.5277 PLXND1 Zornitza Stark Classified gene: PLXND1 as Green List (high evidence)
Mendeliome v0.5277 PLXND1 Zornitza Stark Gene: plxnd1 has been classified as Green List (High Evidence).
Mendeliome v0.5276 PLXND1 Zornitza Stark gene: PLXND1 was added
gene: PLXND1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLXND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLXND1 were set to 26068067
Phenotypes for gene: PLXND1 were set to Möbius syndrome
Review for gene: PLXND1 was set to GREEN
Added comment: De novo variants in 3 unrelated individuals with Moebius syndrome with some functional evidence.
Sources: Literature
Mendeliome v0.5275 ECEL1 Zornitza Stark Marked gene: ECEL1 as ready
Mendeliome v0.5275 ECEL1 Zornitza Stark Gene: ecel1 has been classified as Green List (High Evidence).
Mendeliome v0.5275 ECEL1 Zornitza Stark Phenotypes for gene: ECEL1 were changed from to Arthrogryposis, distal, type 5D, MIM# 615065
Congenital ophthalmoplegia v0.18 PLXND1 Zornitza Stark Marked gene: PLXND1 as ready
Congenital ophthalmoplegia v0.18 PLXND1 Zornitza Stark Gene: plxnd1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.18 PLXND1 Zornitza Stark Phenotypes for gene: PLXND1 were changed from möbius syndrome to Möbius syndrome
Congenital ophthalmoplegia v0.17 PLXND1 Zornitza Stark Classified gene: PLXND1 as Green List (high evidence)
Congenital ophthalmoplegia v0.17 PLXND1 Zornitza Stark Gene: plxnd1 has been classified as Green List (High Evidence).
Mendeliome v0.5274 MYMK Zornitza Stark Tag founder tag was added to gene: MYMK.
Mendeliome v0.5274 MYMK Zornitza Stark changed review comment from: Sources: Expert list; to: Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Intellect has been normal in molecularly confirmed cases. Defect in myoblast fusion. 6 unrelated families reported with CFZ phenotype and bi-allelic MYMK variants. p.Pro91Thr is a common founder variant, which is hypomorphic.
Mendeliome v0.5274 MYMK Zornitza Stark edited their review of gene: MYMK: Changed phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940
Arthrogryposis v0.242 MYMK Zornitza Stark Tag founder tag was added to gene: MYMK.
Arthrogryposis v0.242 MYMK Zornitza Stark changed review comment from: Distal contractures are part of the phenotype of this muscle disorder.
Sources: Expert list; to: Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Intellect has been normal in molecularly confirmed cases. Defect in myoblast fusion. 6 unrelated families reported with CFZ phenotype and bi-allelic MYMK variants. p.Pro91Thr is a common founder variant, which is hypomorphic.

Distal contractures are part of the phenotype of this muscle disorder.
Sources: Expert list
Congenital ophthalmoplegia v0.16 MYMK Zornitza Stark Marked gene: MYMK as ready
Congenital ophthalmoplegia v0.16 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.16 MYMK Zornitza Stark Tag founder tag was added to gene: MYMK.
Congenital ophthalmoplegia v0.16 MYMK Zornitza Stark Publications for gene: MYMK were set to PMID: 28681861
Congenital ophthalmoplegia v0.15 MYMK Zornitza Stark Classified gene: MYMK as Green List (high evidence)
Congenital ophthalmoplegia v0.15 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.14 MYMK Zornitza Stark reviewed gene: MYMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29560417; Phenotypes: Carey-Fineman-Ziter syndrome, MIM# 254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.13 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Congenital ophthalmoplegia v0.13 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.13 HOXA1 Zornitza Stark Classified gene: HOXA1 as Green List (high evidence)
Congenital ophthalmoplegia v0.13 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Mendeliome v0.5274 ECEL1 Zornitza Stark Publications for gene: ECEL1 were set to
Mendeliome v0.5273 ECEL1 Zornitza Stark Mode of inheritance for gene: ECEL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5272 ECEL1 Zornitza Stark reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261301, 23236030, 25099528, 24782201; Phenotypes: Arthrogryposis, distal, type 5D, MIM# 615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.242 ECEL1 Zornitza Stark Marked gene: ECEL1 as ready
Arthrogryposis v0.242 ECEL1 Zornitza Stark Gene: ecel1 has been classified as Green List (High Evidence).
Arthrogryposis v0.242 ECEL1 Zornitza Stark Phenotypes for gene: ECEL1 were changed from to Arthrogryposis, distal, type 5D, MIM# 615065
Arthrogryposis v0.241 ECEL1 Zornitza Stark Publications for gene: ECEL1 were set to
Arthrogryposis v0.240 ECEL1 Zornitza Stark Mode of inheritance for gene: ECEL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.239 ECEL1 Zornitza Stark reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261301, 23236030, 25099528, 24782201; Phenotypes: Arthrogryposis, distal, type 5D, MIM# 615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.11 ECEL1 Zornitza Stark Marked gene: ECEL1 as ready
Congenital ophthalmoplegia v0.11 ECEL1 Zornitza Stark Gene: ecel1 has been classified as Amber List (Moderate Evidence).
Congenital ophthalmoplegia v0.11 ECEL1 Zornitza Stark Classified gene: ECEL1 as Amber List (moderate evidence)
Congenital ophthalmoplegia v0.11 ECEL1 Zornitza Stark Gene: ecel1 has been classified as Amber List (Moderate Evidence).
Congenital ophthalmoplegia v0.10 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Congenital ophthalmoplegia v0.10 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Red List (Low Evidence).
Congenital ophthalmoplegia v0.10 GRHL2 Zornitza Stark Tag SV/CNV tag was added to gene: GRHL2.
Congenital ophthalmoplegia v0.10 CHN1 Zornitza Stark Marked gene: CHN1 as ready
Congenital ophthalmoplegia v0.10 CHN1 Zornitza Stark Gene: chn1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.10 CHN1 Zornitza Stark Classified gene: CHN1 as Green List (high evidence)
Congenital ophthalmoplegia v0.10 CHN1 Zornitza Stark Gene: chn1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.9 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Congenital ophthalmoplegia v0.9 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Red List (Low Evidence).
Congenital ophthalmoplegia v0.9 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to 23001566
Congenital ophthalmoplegia v0.8 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital ophthalmoplegia v0.8 REV3L Shannon LeBlanc gene: REV3L was added
gene: REV3L was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: REV3L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REV3L were set to PMID: 26068067
Phenotypes for gene: REV3L were set to möbius syndrome
Review for gene: REV3L was set to GREEN
Added comment: de novo variants in 3 unrelated individuals with möbius syndrome and some functional evidence
Sources: Literature
Congenital ophthalmoplegia v0.8 PLXND1 Shannon LeBlanc gene: PLXND1 was added
gene: PLXND1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: PLXND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLXND1 were set to PMID: 26068067
Phenotypes for gene: PLXND1 were set to möbius syndrome
Review for gene: PLXND1 was set to GREEN
Added comment: PMID 26068067 : de novo mutations in 3 unrelated patients with moebius syndrome with some functional evidence.
Sources: Literature
Congenital ophthalmoplegia v0.8 MYMK Shannon LeBlanc gene: MYMK was added
gene: MYMK was added to Congenital fibrosis of the extraocular muscles. Sources: Other
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to PMID: 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, MIM 254940
Review for gene: MYMK was set to GREEN
Added comment: Congenital myopathy due to defect in myoblast fusion. Moebius syndrome / ophthalmoplegia is a common feature.
Sources: Other
Mendeliome v0.5272 PRKG2 Arina Puzriakova gene: PRKG2 was added
gene: PRKG2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKG2 were set to 33106379
Phenotypes for gene: PRKG2 were set to Acromesomelic dysplasia
Review for gene: PRKG2 was set to GREEN
Added comment: - PMID: 33106379 (2020) - Distinct homozygous variants in PRKG2 identified in two unrelated individuals, both with a skeletal dysplasia associated with severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones.

Functional studies showed both variants result in NMD and disrupt the downstream MAPK signalling pathway in response to FGF2. The role of cGKII, encoded by PRKG2, in skeletal growth has been established in several animal models (references provided in paper).
Sources: Literature
Congenital ophthalmoplegia v0.8 ROBO3 Shannon LeBlanc gene: ROBO3 was added
gene: ROBO3 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO3 were set to PMID: 15105459; 16525029
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)
Review for gene: ROBO3 was set to GREEN
Added comment: PMID 15105459: 10 patients with homozygous variants (1 nonsense, 1 splice site, 2 frameshift, and 6 missense mutations)

PMID 16525029 - 2 unrelated children with sporadic HGPPS: one patient compound het for 2 different 2-bp deletions, one patient compound het for a missense and a nonsense mutation.
Sources: Literature
Congenital ophthalmoplegia v0.8 HOXA1 Shannon LeBlanc gene: HOXA1 was added
gene: HOXA1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXA1 were set to 17875913; 20227628; 18412118
Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome; Bosley-Salih-Alorainy syndrome - 601536
Review for gene: HOXA1 was set to GREEN
Added comment: The HOXA1-related syndrome phenotype is variable. The most common features in affected individuals are limited horizontal gaze (diagnosed as Duane syndrome in BSAS and horizontal gaze palsy in ABDS patients) and sensorineural deafness; facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery and/or conotruncal heart defects also occur (PMID 20227628)
Sources: Literature
Congenital ophthalmoplegia v0.8 CHN1 Shannon LeBlanc gene: CHN1 was added
gene: CHN1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: CHN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHN1 were set to PMID 33004823; 18653847; 21555619
Phenotypes for gene: CHN1 were set to Duane retraction syndrome 2, 604356
Review for gene: CHN1 was set to GREEN
Added comment: Gain-of function aetiology: PMID 18653847 - in vitro evidence that gain-of-function heterozygous missense CHN1 mutations in patients with Duane retraction syndrome increase α2-chimaerin RacGAP activity; 21555619 - separate CHN1 mutations 2 families predicted to result in its hyperactivation.
Sources: Literature
Congenital ophthalmoplegia v0.8 SALL4 Shannon LeBlanc gene: SALL4 was added
gene: SALL4 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome, 607323
Review for gene: SALL4 was set to GREEN
Added comment: well documented association with Duane-radial ray syndrome.
Sources: Literature
Congenital ophthalmoplegia v0.8 ECEL1 Shannon LeBlanc gene: ECEL1 was added
gene: ECEL1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECEL1 were set to PMID: 25173900
Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D - 615065; Congenital cranial dysinnervation disorder
Review for gene: ECEL1 was set to AMBER
Added comment: 25173900 described an ocular phenotype consistent with congenital cranial dysinnervation disorder (CCDD) in 3 of 4 siblings with ECEL-1 related distal arthrogryposis. The fourth affected sibling (with the mildest arthrogryposis in the family) had no ocular phenotype. Of 26 other reported recessive ECEL1 mutation cases (14 families), all had arthrogryposis, 19 had documented ptosis, and 4 had documented complex strabismus. One of these cases had both documented ptosis and complex strabismus.
Sources: Literature
Congenital ophthalmoplegia v0.8 GRHL2 Shannon LeBlanc reviewed gene: GRHL2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29110737; Phenotypes: Deafness, autosomal dominant 28, Corneal dystrophy, posterior polymorphous, 4; Mode of inheritance: None
Congenital ophthalmoplegia v0.8 TUBB2B Shannon LeBlanc reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11425694, 23001566; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, Fibrosis of extraocular muscles, congenital; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5272 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 Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth
Skeletal dysplasia v0.59 Zornitza Stark removed gene:BCAP31 from the panel
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark edited their review of gene: FOXP4: Changed rating: AMBER
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark Marked gene: FOXP4 as ready
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark Classified gene: FOXP4 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.10 FOXP4 Zornitza Stark gene: FOXP4 was added
gene: FOXP4 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities
Review for gene: FOXP4 was set to GREEN
Added comment: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays.
Sources: Literature
Mendeliome v0.5271 FOXP4 Zornitza Stark Marked gene: FOXP4 as ready
Mendeliome v0.5271 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Green List (High Evidence).
Mendeliome v0.5271 FOXP4 Zornitza Stark Classified gene: FOXP4 as Green List (high evidence)
Mendeliome v0.5271 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Green List (High Evidence).
Mendeliome v0.5270 FOXP4 Zornitza Stark gene: FOXP4 was added
gene: FOXP4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities
Review for gene: FOXP4 was set to GREEN
Added comment: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3140 FOXP4 Zornitza Stark Marked gene: FOXP4 as ready
Intellectual disability syndromic and non-syndromic v0.3140 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3140 FOXP4 Zornitza Stark Classified gene: FOXP4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3140 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3139 FOXP4 Zornitza Stark edited their review of gene: FOXP4: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.3139 FOXP4 Zornitza Stark changed review comment from: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early challenges.
Sources: Literature; to: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3139 FOXP4 Zornitza Stark changed review comment from: Six unrelated individuals reported, 5 with missense variants in the forkhead box DNA-binding domain of FOXP4, and one individual with a truncating variant. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia, cervical spine abnormalities, and ptosis.
Sources: Literature; to: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early challenges.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3139 FOXP4 Zornitza Stark gene: FOXP4 was added
gene: FOXP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities
Review for gene: FOXP4 was set to GREEN
Added comment: Six unrelated individuals reported, 5 with missense variants in the forkhead box DNA-binding domain of FOXP4, and one individual with a truncating variant. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia, cervical spine abnormalities, and ptosis.
Sources: Literature
Achromatopsia v1.3 Zornitza Stark removed gene:STN1 from the panel
Mendeliome v0.5269 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Mendeliome v0.5269 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.54 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Lysosomal Storage Disorder v0.54 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.54 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis, MIM# 228000
Lysosomal Storage Disorder v0.53 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.52 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5269 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000
Mendeliome v0.5268 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5267 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950, Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5267 DHX32 Zornitza Stark Marked gene: DHX32 as ready
Mendeliome v0.5267 DHX32 Zornitza Stark Gene: dhx32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5267 DHX32 Zornitza Stark Classified gene: DHX32 as Amber List (moderate evidence)
Mendeliome v0.5267 DHX32 Zornitza Stark Gene: dhx32 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3138 DHX32 Zornitza Stark Marked gene: DHX32 as ready
Intellectual disability syndromic and non-syndromic v0.3138 DHX32 Zornitza Stark Gene: dhx32 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3138 DHX32 Zornitza Stark Classified gene: DHX32 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3138 DHX32 Zornitza Stark Gene: dhx32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5266 TNF Zornitza Stark Marked gene: TNF as ready
Mendeliome v0.5266 TNF Zornitza Stark Gene: tnf has been classified as Red List (Low Evidence).
Mendeliome v0.5266 TNF Zornitza Stark Publications for gene: TNF were set to
Mendeliome v0.5265 TNF Zornitza Stark Classified gene: TNF as Red List (low evidence)
Mendeliome v0.5265 TNF Zornitza Stark Gene: tnf has been classified as Red List (Low Evidence).
Regression v0.206 NHLRC2 Zornitza Stark Marked gene: NHLRC2 as ready
Regression v0.206 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Regression v0.206 NHLRC2 Zornitza Stark Classified gene: NHLRC2 as Green List (high evidence)
Regression v0.206 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Marked gene: NHLRC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Classified gene: NHLRC2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Classified gene: NHLRC2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Mendeliome v0.5264 ALK Zornitza Stark Marked gene: ALK as ready
Mendeliome v0.5264 ALK Zornitza Stark Gene: alk has been classified as Green List (High Evidence).
Mendeliome v0.5264 ALK Zornitza Stark Phenotypes for gene: ALK were changed from to {Neuroblastoma, susceptibility to, 3} 613014; Spastic-dystonic diplegia
Mendeliome v0.5263 ALK Zornitza Stark Publications for gene: ALK were set to
Mendeliome v0.5262 ALK Zornitza Stark Mode of inheritance for gene: ALK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5261 ALK Zornitza Stark reviewed gene: ALK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32989326, 18724359; Phenotypes: {Neuroblastoma, susceptibility to, 3} 613014, Spastic-dystonic diplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.156 ALK Zornitza Stark Marked gene: ALK as ready
Hereditary Spastic Paraplegia v0.156 ALK Zornitza Stark Gene: alk has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.156 ALK Zornitza Stark Classified gene: ALK as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.156 ALK Zornitza Stark Gene: alk has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.153 ALK Zornitza Stark Marked gene: ALK as ready
Dystonia and Chorea v0.153 ALK Zornitza Stark Gene: alk has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.153 ALK Zornitza Stark Classified gene: ALK as Amber List (moderate evidence)
Dystonia and Chorea v0.153 ALK Zornitza Stark Gene: alk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5261 RHOB Zornitza Stark Marked gene: RHOB as ready
Mendeliome v0.5261 RHOB Zornitza Stark Gene: rhob has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5261 RHOB Zornitza Stark Phenotypes for gene: RHOB were changed from Cerebral Palsy (PMID:32989326) to Cerebral Palsy
Mendeliome v0.5260 RHOB Zornitza Stark Classified gene: RHOB as Amber List (moderate evidence)
Mendeliome v0.5260 RHOB Zornitza Stark Gene: rhob has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.54 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from Cerebral Palsy (PMID:32989326) to Lissencephaly 3, MIM# 611603; Cerebral palsy
Cerebral Palsy v0.53 TUBA1A Zornitza Stark reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: None
Mendeliome v0.5259 ASAH1 Sue White edited their review of gene: ASAH1: Changed publications: 32875576, 32449975
Intellectual disability syndromic and non-syndromic v0.3137 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant
Intellectual disability syndromic and non-syndromic v0.3136 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979 to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant
Intellectual disability syndromic and non-syndromic v0.3135 FBXO31 Zornitza Stark Publications for gene: FBXO31 were set to 24623383
Intellectual disability syndromic and non-syndromic v0.3134 FBXO31 Zornitza Stark Mode of pathogenicity for gene: FBXO31 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.3133 FBXO31 Zornitza Stark Classified gene: FBXO31 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3133 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5259 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979 to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant
Mendeliome v0.5258 DHX32 Dean Phelan gene: DHX32 was added
gene: DHX32 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DHX32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX32 were set to PMID: 32989326
Phenotypes for gene: DHX32 were set to Intellectual disability, spastic diplegia, dystonia, brain abnormalities
Review for gene: DHX32 was set to AMBER
Added comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two unrelated patients with intellectual disability, one with spastic diplegia, and the other characterised as generalised dystonia. Brain abnormalities were identified also.
Sources: Literature
Mendeliome v0.5258 FBXO31 Zornitza Stark Publications for gene: FBXO31 were set to 24623383
Mendeliome v0.5257 ASAH1 Sue White reviewed gene: ASAH1: Rating: ; Mode of pathogenicity: None; Publications: 32875576; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5257 FBXO31 Zornitza Stark Mode of pathogenicity for gene: FBXO31 was changed from None to Other
Intellectual disability syndromic and non-syndromic v0.3132 DHX32 Dean Phelan gene: DHX32 was added
gene: DHX32 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DHX32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX32 were set to PMID: 32989326
Phenotypes for gene: DHX32 were set to Intellectual disability, spastic diplegia, dystonia, brain abnormalities
Review for gene: DHX32 was set to AMBER
Added comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two unrelated patients with intellectual disability, one with spastic diplegia, and the other characterised as generalised dystonia. Brain abnormalities were identified also.
Sources: Literature
Mendeliome v0.5256 FBXO31 Zornitza Stark Mode of inheritance for gene: FBXO31 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5255 FBXO31 Zornitza Stark Classified gene: FBXO31 as Amber List (moderate evidence)
Mendeliome v0.5255 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.53 SPAST Zornitza Stark Marked gene: SPAST as ready
Cerebral Palsy v0.53 SPAST Zornitza Stark Added comment: Comment when marking as ready: Gene-disease association with spasticity is well established, individuals identified in a CP cohort.
Cerebral Palsy v0.53 SPAST Zornitza Stark Gene: spast has been classified as Green List (High Evidence).
Cerebral Palsy v0.53 SPAST Zornitza Stark Classified gene: SPAST as Green List (high evidence)
Cerebral Palsy v0.53 SPAST Zornitza Stark Gene: spast has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.155 ALK Dean Phelan gene: ALK was added
gene: ALK was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALK were set to PMID: 32989326
Phenotypes for gene: ALK were set to Spastic-dystonic diplegia
Review for gene: ALK was set to AMBER
Added comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3132 FBXO31 Kristin Rigbye reviewed gene: FBXO31: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 32989326; Phenotypes: Mental retardation, autosomal recessive 45, MIM#615979, Cerebral palsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5254 TNF Seb Lunke reviewed gene: TNF: Rating: RED; Mode of pathogenicity: None; Publications: 26117714; Phenotypes: ; Mode of inheritance: None
Cerebral Palsy v0.52 DHX32 Zornitza Stark Marked gene: DHX32 as ready
Cerebral Palsy v0.52 DHX32 Zornitza Stark Gene: dhx32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5254 FBXO31 Kristin Rigbye changed review comment from: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.; to: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.

Extended patient phenotypes: Spastic diplegia, with esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Spastic paraplegia with ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).
Cerebral Palsy v0.52 DHX32 Zornitza Stark Classified gene: DHX32 as Amber List (moderate evidence)
Cerebral Palsy v0.52 DHX32 Zornitza Stark Gene: dhx32 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.51 FBXO31 Kristin Rigbye changed review comment from: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.

Extended patient phenotypes: Esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).

Sources: Literature; to: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.

Extended patient phenotypes: Spastic diplegia, with esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Spastic paraplegia with ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).

Sources: Literature
Cerebral Palsy v0.51 FBXO31 Kristin Rigbye changed review comment from: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.
Sources: Literature; to: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.

Extended patient phenotypes: Esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).

Sources: Literature
Cerebral Palsy v0.51 SPAST Crystle Lee gene: SPAST was added
gene: SPAST was added to Cerebral Palsy. Sources: Expert list
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to 32989326
Phenotypes for gene: SPAST were set to Cerebral Palsy (PMID:32989326)
Review for gene: SPAST was set to AMBER
Added comment: 2 different de novo missense variants reported in CP cohort. Both patients presented with spasticity.
Sources: Expert list
Cerebral Palsy v0.51 ATL1 Zornitza Stark Marked gene: ATL1 as ready
Cerebral Palsy v0.51 ATL1 Zornitza Stark Gene: atl1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.51 ATL1 Zornitza Stark Classified gene: ATL1 as Amber List (moderate evidence)
Cerebral Palsy v0.51 ATL1 Zornitza Stark Gene: atl1 has been classified as Amber List (Moderate Evidence).
Regression v0.205 NHLRC2 Paul De Fazio gene: NHLRC2 was added
gene: NHLRC2 was added to Regression. Sources: Literature
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 29423877; 32435055
Phenotypes for gene: NHLRC2 were set to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278
Review for gene: NHLRC2 was set to GREEN
gene: NHLRC2 was marked as current diagnostic
Added comment: 3 families with compound het variants in total, all share one missense variant (p.Asp148Tyr)

PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.

PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.
Sources: Literature
Dystonia and Chorea v0.152 ALK Dean Phelan gene: ALK was added
gene: ALK was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALK were set to PMID: 32989326
Phenotypes for gene: ALK were set to Spastic-dystonic diplegia
Review for gene: ALK was set to AMBER
Added comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.15 NHLRC2 Paul De Fazio gene: NHLRC2 was added
gene: NHLRC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 29423877; 32435055
Phenotypes for gene: NHLRC2 were set to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278
Review for gene: NHLRC2 was set to GREEN
gene: NHLRC2 was marked as current diagnostic
Added comment: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)

PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.

PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.
Sources: Literature
Mendeliome v0.5254 NHLRC2 Zornitza Stark Marked gene: NHLRC2 as ready
Mendeliome v0.5254 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Mendeliome v0.5254 NHLRC2 Zornitza Stark Phenotypes for gene: NHLRC2 were changed from to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278
Mendeliome v0.5253 FBXO31 Kristin Rigbye reviewed gene: FBXO31: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 32989326; Phenotypes: Cerebral palsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5253 NHLRC2 Zornitza Stark Publications for gene: NHLRC2 were set to
Cerebral Palsy v0.50 DHX32 Dean Phelan gene: DHX32 was added
gene: DHX32 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: DHX32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX32 were set to PMID: 32989326
Phenotypes for gene: DHX32 were set to Intellectual disability, spastic diplegia, dystonia, brain abnormalities
Review for gene: DHX32 was set to AMBER
Added comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two unrelated patients with intellectual disability, one with spastic diplegia, and the other characterised as generalised dystonia. Brain abnormalities were identified also.
Sources: Literature
Mendeliome v0.5252 NHLRC2 Zornitza Stark Mode of inheritance for gene: NHLRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5251 RHOB Crystle Lee gene: RHOB was added
gene: RHOB was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOB were set to 32989326
Phenotypes for gene: RHOB were set to Cerebral Palsy (PMID:32989326)
Mode of pathogenicity for gene: RHOB was set to Other
Review for gene: RHOB was set to AMBER
Added comment: Candidate disease-causing gene for CP. Recurrent de novo missense variant reported in 2 unrelated families with supporting functional studies.
Sources: Expert list
Skeletal dysplasia v0.58 BCAP31 Sue White Classified gene: BCAP31 as Green List (high evidence)
Skeletal dysplasia v0.58 BCAP31 Sue White Gene: bcap31 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.57 BCAP31 Sue White gene: BCAP31 was added
gene: BCAP31 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 32681719
Phenotypes for gene: BCAP31 were set to XL-Schimke; deafness, dystonia and hypomyelination phenotype
Added comment: Deafness, dystonia and hypomyelination phenotype with short stature and features of XL-Schimke syndrome (MIM 300475)
Sources: Literature
Cerebral Palsy v0.50 RHOB Seb Lunke Marked gene: RHOB as ready
Cerebral Palsy v0.50 RHOB Seb Lunke Gene: rhob has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.50 RHOB Seb Lunke Classified gene: RHOB as Amber List (moderate evidence)
Cerebral Palsy v0.50 RHOB Seb Lunke Gene: rhob has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.49 FBXO31 Seb Lunke Marked gene: FBXO31 as ready
Cerebral Palsy v0.49 FBXO31 Seb Lunke Gene: fbxo31 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.49 FBXO31 Seb Lunke Classified gene: FBXO31 as Amber List (moderate evidence)
Cerebral Palsy v0.49 FBXO31 Seb Lunke Gene: fbxo31 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.48 ALK Zornitza Stark Marked gene: ALK as ready
Cerebral Palsy v0.48 ALK Zornitza Stark Gene: alk has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.48 ALK Zornitza Stark Classified gene: ALK as Amber List (moderate evidence)
Cerebral Palsy v0.48 ALK Zornitza Stark Gene: alk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5251 CTLA4 Zornitza Stark Marked gene: CTLA4 as ready
Mendeliome v0.5251 CTLA4 Zornitza Stark Gene: ctla4 has been classified as Green List (High Evidence).
Mendeliome v0.5251 CTLA4 Zornitza Stark Phenotypes for gene: CTLA4 were changed from to Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD
Cerebral Palsy v0.47 TUBA1A Seb Lunke Marked gene: TUBA1A as ready
Cerebral Palsy v0.47 TUBA1A Seb Lunke Gene: tuba1a has been classified as Green List (High Evidence).
Cerebral Palsy v0.47 TUBA1A Seb Lunke Phenotypes for gene: TUBA1A were changed from to Cerebral Palsy (PMID:32989326)
Mendeliome v0.5250 CTLA4 Zornitza Stark Mode of inheritance for gene: CTLA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v0.46 TUBA1A Seb Lunke Publications for gene: TUBA1A were set to 32989326; 25666757
Mendeliome v0.5249 VIM Zornitza Stark Marked gene: VIM as ready
Mendeliome v0.5249 VIM Zornitza Stark Gene: vim has been classified as Green List (High Evidence).
Cerebral Palsy v0.45 TUBA1A Seb Lunke Publications for gene: TUBA1A were set to
Mendeliome v0.5249 VIM Zornitza Stark Phenotypes for gene: VIM were changed from to Cataract 30, pulverulent 116300; frontonasal dysostosis and premature aging
Mendeliome v0.5248 NHLRC2 Paul De Fazio changed review comment from: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)

PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.

PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.; to: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)

PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.

PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.
Mendeliome v0.5248 NHLRC2 Paul De Fazio changed review comment from: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)

PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Zebrafish knockdown affected the integrity of cells in the midbrain region.

PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.; to: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)

PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.

PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.
Cerebral Palsy v0.44 ATL1 Kristin Rigbye gene: ATL1 was added
gene: ATL1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL1 were set to PMID: 32989326
Phenotypes for gene: ATL1 were set to Cerebral palsy
Review for gene: ATL1 was set to AMBER
Added comment: Two CP cohort patients with de novo ATL1 missense variants (p.Ala350Val and p.Lys406Gln) located in the GBP domain. Patients exhibited spasticity and dystonia with brain findings of T2 hyperintensities and bihemispheric periventricular leukomalacia. No functional studies.
Sources: Literature
Mendeliome v0.5248 VIM Zornitza Stark Publications for gene: VIM were set to
Cerebral Palsy v0.44 TUBA1A Seb Lunke Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5247 VIM Zornitza Stark Mode of inheritance for gene: VIM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5246 VIM Zornitza Stark reviewed gene: VIM: Rating: GREEN; Mode of pathogenicity: None; Publications: 19126778, 26694549, 28450710; Phenotypes: Cataract 30, pulverulent 116300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achromatopsia v1.2 STN1 Sue White Classified gene: STN1 as Green List (high evidence)
Achromatopsia v1.2 STN1 Sue White Gene: stn1 has been classified as Green List (High Evidence).
Achromatopsia v1.1 STN1 Sue White Marked gene: STN1 as ready
Achromatopsia v1.1 STN1 Sue White Gene: stn1 has been classified as Red List (Low Evidence).
Achromatopsia v1.1 STN1 Sue White gene: STN1 was added
gene: STN1 was added to Achromatopsia. Sources: Literature
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940; 32627942
Phenotypes for gene: STN1 were set to bone marrow failure; dystonia; premature ageing; leukodystrophy; retinal telangiactasis
Penetrance for gene: STN1 were set to Complete
Cerebral Palsy v0.43 TUBA1A Crystle Lee changed review comment from: >3 de novo CP families reported; to: 3 de novo CP families reported
Intellectual disability syndromic and non-syndromic v0.3132 STN1 Sue White Classified gene: STN1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3132 STN1 Sue White Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5246 NHLRC2 Paul De Fazio reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29423877, 32435055; Phenotypes: Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3131 STN1 Sue White gene: STN1 was added
gene: STN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 32627942; 27432940
Phenotypes for gene: STN1 were set to cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis
Penetrance for gene: STN1 were set to Complete
Added comment: 3 unrelated patients reported with Coats-plus syndrome. Developmental delay noted in two.
Sources: Literature
Syndromic Retinopathy v0.153 STN1 Zornitza Stark Marked gene: STN1 as ready
Syndromic Retinopathy v0.153 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.153 STN1 Zornitza Stark Classified gene: STN1 as Green List (high evidence)
Syndromic Retinopathy v0.153 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.152 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940; 32627942
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to GREEN
Added comment: Three unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia.

Retinal telangiectasia.
Sources: Literature
Mendeliome v0.5246 STN1 Zornitza Stark Publications for gene: STN1 were set to 27432940
Mendeliome v0.5245 STN1 Zornitza Stark Classified gene: STN1 as Green List (high evidence)
Mendeliome v0.5245 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.43 FBXO31 Kristin Rigbye gene: FBXO31 was added
gene: FBXO31 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: FBXO31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO31 were set to PMID: 32989326
Phenotypes for gene: FBXO31 were set to Cerebral palsy
Penetrance for gene: FBXO31 were set to unknown
Mode of pathogenicity for gene: FBXO31 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: FBXO31 was set to AMBER
Added comment: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.
Sources: Literature
Mendeliome v0.5244 STN1 Zornitza Stark edited their review of gene: STN1: Added comment: Third unrelated family reported, promote to Green.; Changed rating: GREEN; Changed publications: 27432940, 32627942
Liver Failure_Paediatric v0.77 STN1 Zornitza Stark Marked gene: STN1 as ready
Liver Failure_Paediatric v0.77 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.77 STN1 Zornitza Stark Classified gene: STN1 as Green List (high evidence)
Liver Failure_Paediatric v0.77 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.76 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Liver Failure_Paediatric. Sources: Literature
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940; 32627942
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to GREEN
Added comment: Three unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia.
Sources: Literature
Cerebral Palsy v0.43 ALK Dean Phelan gene: ALK was added
gene: ALK was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALK were set to PMID: 32989326
Phenotypes for gene: ALK were set to Spastic-dystonic diplegia
Review for gene: ALK was set to AMBER
Added comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient.
Sources: Literature
Brain Calcification v0.46 STN1 Zornitza Stark Publications for gene: STN1 were set to 27432940
Bone Marrow Failure v0.169 STN1 Zornitza Stark Publications for gene: STN1 were set to 27432940
Brain Calcification v0.45 STN1 Zornitza Stark Classified gene: STN1 as Green List (high evidence)
Brain Calcification v0.45 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.43 RHOB Crystle Lee gene: RHOB was added
gene: RHOB was added to Cerebral Palsy. Sources: Expert Review
Mode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOB were set to 32989326
Phenotypes for gene: RHOB were set to Cerebral Palsy (PMID:32989326)
Mode of pathogenicity for gene: RHOB was set to Other
Review for gene: RHOB was set to AMBER
Added comment: Candidate disease-causing gene for CP. Recurrent de novo missense variant reported in 2 unrelated families with supporting functional studies.
Sources: Expert Review
Brain Calcification v0.44 STN1 Zornitza Stark edited their review of gene: STN1: Added comment: Third unrelated family reported, promoted to Green.; Changed rating: GREEN; Changed publications: 27432940, 32627942; Changed phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341
Mendeliome v0.5244 CTLA4 Teresa Zhao reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bone Marrow Failure v0.168 STN1 Zornitza Stark Marked gene: STN1 as ready
Bone Marrow Failure v0.168 STN1 Zornitza Stark Added comment: Comment when marking as ready: Promoted to Green, highly specific constellation of features.
Bone Marrow Failure v0.168 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.168 STN1 Zornitza Stark Classified gene: STN1 as Green List (high evidence)
Bone Marrow Failure v0.168 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.43 TUBA1A Crystle Lee reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32989326, 25666757; Phenotypes: Cerebral Palsy (PMID:32989326); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5244 ITPR3 Zornitza Stark Marked gene: ITPR3 as ready
Mendeliome v0.5244 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5244 VIM Ee Ming Wong reviewed gene: VIM: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32066935; Phenotypes: frontonasal dysostosis, premature aging; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.167 STN1 Sue White reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32627942; Phenotypes: Coats-plus syndrome, intracranial calcification, retinal telangiactasia, bone marrow failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5244 ITPR3 Zornitza Stark Classified gene: ITPR3 as Amber List (moderate evidence)
Mendeliome v0.5244 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5243 ITPR3 Zornitza Stark gene: ITPR3 was added
gene: ITPR3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITPR3 were set to 32949214
Phenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease
Review for gene: ITPR3 was set to AMBER
Added comment: Two unrelated families reported: variant segregated in four affected individuals in one family and was de novo in the second family where there was a single affected person. Some evidence for dominant-negative effect.
Sources: Literature
Mendeliome v0.5242 SOCS1 Zornitza Stark Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency to Common variable immunodeficiency; Early-onset autoimmunity
Mendeliome v0.5241 SOCS1 Zornitza Stark Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100
Mendeliome v0.5240 SOCS1 Zornitza Stark reviewed gene: SOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33087723; Phenotypes: Early-onset autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.72 SOCS1 Zornitza Stark Marked gene: SOCS1 as ready
Disorders of immune dysregulation v0.72 SOCS1 Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.72 SOCS1 Zornitza Stark Classified gene: SOCS1 as Green List (high evidence)
Disorders of immune dysregulation v0.72 SOCS1 Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.71 SOCS1 Zornitza Stark gene: SOCS1 was added
gene: SOCS1 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOCS1 were set to 33087723
Phenotypes for gene: SOCS1 were set to Early-onset autoimmunity
Review for gene: SOCS1 was set to GREEN
Added comment: Ten individuals from 5 unrelated families with LOF variants in this gene and early-onset autoimmunity. Functional data indicates cytokine hypersensitivity of immune cells.
Sources: Literature
Mendeliome v0.5240 AMOTL1 Zornitza Stark Marked gene: AMOTL1 as ready
Mendeliome v0.5240 AMOTL1 Zornitza Stark Gene: amotl1 has been classified as Red List (Low Evidence).
Mendeliome v0.5240 AMOTL1 Zornitza Stark gene: AMOTL1 was added
gene: AMOTL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMOTL1 were set to 33026150
Phenotypes for gene: AMOTL1 were set to Cleft lip and palate; imperforate anus; dysmorphism
Review for gene: AMOTL1 was set to RED
Added comment: Two unrelated families reported. In one, the variant was identified in parent and child who had orofacial cleft and cardiac abnormalities. Second report in PMID 33026150, de novo missense variant and cleft lip/palate, imperforate anus and dysmorphism. Mouse model does not recapitulate phenotype.
Sources: Literature
Cancer Predisposition_Paediatric v0.93 PAX5 Zornitza Stark Marked gene: PAX5 as ready
Cancer Predisposition_Paediatric v0.93 PAX5 Zornitza Stark Gene: pax5 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.93 PAX5 Zornitza Stark Phenotypes for gene: PAX5 were changed from to {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545
Cancer Predisposition_Paediatric v0.92 PAX5 Zornitza Stark Publications for gene: PAX5 were set to
Cancer Predisposition_Paediatric v0.91 PAX5 Zornitza Stark Mode of inheritance for gene: PAX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.90 PAX5 Zornitza Stark reviewed gene: PAX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24013638, 30643249, 33036026; Phenotypes: {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5239 KIRREL1 Zornitza Stark Marked gene: KIRREL1 as ready
Mendeliome v0.5239 KIRREL1 Zornitza Stark Gene: kirrel1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5239 KIRREL1 Zornitza Stark Classified gene: KIRREL1 as Amber List (moderate evidence)
Mendeliome v0.5239 KIRREL1 Zornitza Stark Gene: kirrel1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5238 KIRREL1 Zornitza Stark gene: KIRREL1 was added
gene: KIRREL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIRREL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIRREL1 were set to 31472902
Phenotypes for gene: KIRREL1 were set to Steroid-resistant nephrotic syndrome
Review for gene: KIRREL1 was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants and limited functional data.
Sources: Literature
Proteinuria v0.142 KIRREL1 Zornitza Stark Marked gene: KIRREL1 as ready
Proteinuria v0.142 KIRREL1 Zornitza Stark Gene: kirrel1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.142 KIRREL1 Zornitza Stark Classified gene: KIRREL1 as Amber List (moderate evidence)
Proteinuria v0.142 KIRREL1 Zornitza Stark Gene: kirrel1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.141 KIRREL1 Zornitza Stark gene: KIRREL1 was added
gene: KIRREL1 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: KIRREL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIRREL1 were set to 31472902
Phenotypes for gene: KIRREL1 were set to Steroid-resistant nephrotic syndrome
Review for gene: KIRREL1 was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants and limited functional data.
Sources: Literature
Mendeliome v0.5237 GFRA1 Zornitza Stark Marked gene: GFRA1 as ready
Mendeliome v0.5237 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5237 GFRA1 Zornitza Stark Classified gene: GFRA1 as Amber List (moderate evidence)
Mendeliome v0.5237 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5236 GFRA1 Zornitza Stark gene: GFRA1 was added
gene: GFRA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFRA1 were set to 33020172
Phenotypes for gene: GFRA1 were set to Renal agenesis
Review for gene: GFRA1 was set to AMBER
Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system.
Sources: Literature
Mendeliome v0.5235 GNB2 Bryony Thompson reviewed gene: GNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33057194; Phenotypes: Developmental disorder, sinus node dysfunction and atrioventricular block; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5235 GIGYF1 Bryony Thompson Marked gene: GIGYF1 as ready
Mendeliome v0.5235 GIGYF1 Bryony Thompson Gene: gigyf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5235 GIGYF1 Bryony Thompson Classified gene: GIGYF1 as Amber List (moderate evidence)
Mendeliome v0.5235 GIGYF1 Bryony Thompson Gene: gigyf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5234 GIGYF1 Bryony Thompson gene: GIGYF1 was added
gene: GIGYF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GIGYF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GIGYF1 were set to 33057194
Phenotypes for gene: GIGYF1 were set to Developmental disorder
Review for gene: GIGYF1 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 14 de novo variants (4 frameshift, 5 missense, 1 splice donor, 3 stopgain, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.5233 FBXW7 Bryony Thompson Marked gene: FBXW7 as ready
Mendeliome v0.5233 FBXW7 Bryony Thompson Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5233 FBXW7 Bryony Thompson Classified gene: FBXW7 as Amber List (moderate evidence)
Mendeliome v0.5233 FBXW7 Bryony Thompson Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5232 FBXW7 Bryony Thompson gene: FBXW7 was added
gene: FBXW7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW7 were set to 33057194
Phenotypes for gene: FBXW7 were set to Developmental disorder
Review for gene: FBXW7 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 12 de novo missense and 1 de novo synonymous variant identified in ~10,000 cases with developmental disorders (no other phenotype info provided)
Sources: Literature
Liver Failure_Paediatric v0.75 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Liver Failure_Paediatric v0.75 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.75 BCS1L Zornitza Stark Classified gene: BCS1L as Green List (high evidence)
Liver Failure_Paediatric v0.75 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.74 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 12910490; 12215968; 21274865
Phenotypes for gene: BCS1L were set to GRACILE syndrome, MIM# 603358; Mitochondrial complex III deficiency, nuclear type 1 , MIM#124000
Review for gene: BCS1L was set to GREEN
Added comment: The two phenotypes pertinent to this panel are a Leigh-like syndrome; and growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death (GRACILE syndrome). Mitochondrial hepatopathy.
Sources: Expert list
Liver Failure_Paediatric v0.73 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Liver Failure_Paediatric v0.73 POLG2 Zornitza Stark Gene: polg2 has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.73 POLG2 Zornitza Stark Classified gene: POLG2 as Amber List (moderate evidence)
Liver Failure_Paediatric v0.73 POLG2 Zornitza Stark Gene: polg2 has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.72 POLG2 Zornitza Stark gene: POLG2 was added
gene: POLG2 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLG2 were set to 27592148; 30157269; 21555342
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM# 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4 610131
Review for gene: POLG2 was set to AMBER
Added comment: Single family reported with bi-allelic variants in POLG2 and severe neonatal hepatic failure, some functional data to support variant pathogenicity. Note mono-allelic variants in this gene are associated with PEO phenotype, but onset and severity are highly variable including reports of childhood manifestations with liver dysfunction.
Sources: Expert list
Liver Failure_Paediatric v0.71 SH2D1A Zornitza Stark Marked gene: SH2D1A as ready
Liver Failure_Paediatric v0.71 SH2D1A Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.71 SH2D1A Zornitza Stark Classified gene: SH2D1A as Green List (high evidence)
Liver Failure_Paediatric v0.71 SH2D1A Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.70 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH2D1A were set to 6306053; 9771704
Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Review for gene: SH2D1A was set to GREEN
Added comment: A primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis. Liver dysfunction, hepatic necrosis and liver failure reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3130 TKFC Zornitza Stark Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction
Intellectual disability syndromic and non-syndromic v0.3129 TKFC Zornitza Stark edited their review of gene: TKFC: Changed phenotypes: Triokinase and FMN cyclase deficiency syndrome, MIM#618805, Developmental delay, cataracts, liver dysfunction
Mendeliome v0.5231 TKFC Zornitza Stark Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction
Mendeliome v0.5230 TKFC Zornitza Stark edited their review of gene: TKFC: Changed phenotypes: Triokinase and FMN cyclase deficiency syndrome, MIM#618805, Developmental delay, cataracts, liver dysfunction
Cataract v0.239 TKFC Zornitza Stark edited their review of gene: TKFC: Changed phenotypes: Triokinase and FMN cyclase deficiency syndrome, MIM#618805, Developmental delay, cataracts, liver dysfunction
Cataract v0.239 TKFC Zornitza Stark Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction
Liver Failure_Paediatric v0.69 TKFC Zornitza Stark Marked gene: TKFC as ready
Liver Failure_Paediatric v0.69 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.69 TKFC Zornitza Stark Classified gene: TKFC as Amber List (moderate evidence)
Liver Failure_Paediatric v0.69 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.68 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated families reported. Liver dysfunction, including liver failure in one.
Sources: Expert list
Liver Failure_Paediatric v0.67 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Liver Failure_Paediatric v0.67 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.67 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Liver Failure_Paediatric v0.67 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.66 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP1 were set to 27231034; 32216104; 32058063; 29192153
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM# 300972
Review for gene: ATP6AP1 was set to GREEN
Added comment: X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Liver failure reported.
Sources: Expert list
Liver Failure_Paediatric v0.65 IL18BP Zornitza Stark Marked gene: IL18BP as ready
Liver Failure_Paediatric v0.65 IL18BP Zornitza Stark Gene: il18bp has been classified as Red List (Low Evidence).
Liver Failure_Paediatric v0.65 IL18BP Zornitza Stark gene: IL18BP was added
gene: IL18BP was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL18BP were set to 31213488
Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549
Review for gene: IL18BP was set to RED
Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Mendeliome v0.5230 PRKAR1B Zornitza Stark Marked gene: PRKAR1B as ready
Mendeliome v0.5230 PRKAR1B Zornitza Stark Gene: prkar1b has been classified as Green List (High Evidence).
Mendeliome v0.5230 PRKAR1B Zornitza Stark Classified gene: PRKAR1B as Green List (high evidence)
Mendeliome v0.5230 PRKAR1B Zornitza Stark Gene: prkar1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3129 PRKAR1B Zornitza Stark Marked gene: PRKAR1B as ready
Intellectual disability syndromic and non-syndromic v0.3129 PRKAR1B Zornitza Stark Gene: prkar1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3129 PRKAR1B Zornitza Stark Classified gene: PRKAR1B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3129 PRKAR1B Zornitza Stark Gene: prkar1b has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.64 TFAM Zornitza Stark Marked gene: TFAM as ready
Liver Failure_Paediatric v0.64 TFAM Zornitza Stark Gene: tfam has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.64 TFAM Zornitza Stark Classified gene: TFAM as Amber List (moderate evidence)
Liver Failure_Paediatric v0.64 TFAM Zornitza Stark Gene: tfam has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.63 TFAM Zornitza Stark gene: TFAM was added
gene: TFAM was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Phenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
Review for gene: TFAM was set to AMBER
Added comment: Two sibs from one consanguineous family presenting with severe progressive liver disease and segregating a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation.
Sources: Expert list
Liver Failure_Paediatric v0.62 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Liver Failure_Paediatric v0.62 COQ2 Zornitza Stark Gene: coq2 has been classified as Red List (Low Evidence).
Liver Failure_Paediatric v0.62 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ2 were set to 17332895
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM#607426
Review for gene: COQ2 was set to RED
Added comment: Manifestations of this disorder are principally encephalomyopathic and renal, however at least one report of liver failure.
Sources: Expert list
Liver Failure_Paediatric v0.61 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Liver Failure_Paediatric v0.61 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.61 SERAC1 Zornitza Stark Classified gene: SERAC1 as Green List (high evidence)
Liver Failure_Paediatric v0.61 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.60 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 29205472
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Review for gene: SERAC1 was set to GREEN
Added comment: Autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. About 50% develop severe, but transient, liver dysfunction and/or signs of liver failure, in the neonatal period or during the first year of life.

More than 50 unrelated families reported.
Sources: Expert list
Liver Failure_Paediatric v0.59 ABCD3 Zornitza Stark Marked gene: ABCD3 as ready
Liver Failure_Paediatric v0.59 ABCD3 Zornitza Stark Gene: abcd3 has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.59 ABCD3 Zornitza Stark Classified gene: ABCD3 as Amber List (moderate evidence)
Liver Failure_Paediatric v0.59 ABCD3 Zornitza Stark Gene: abcd3 has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v0.58 ABCD3 Zornitza Stark gene: ABCD3 was added
gene: ABCD3 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: ABCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD3 were set to 25168382
Phenotypes for gene: ABCD3 were set to Bile acid synthesis defect, congenital, 5 (MIM#616278)
Review for gene: ABCD3 was set to AMBER
Added comment: Single individual reported in 2015. Evidence of a bile acid biosynthesis defect in both the affected individual and knock out mice.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3128 PRKAR1B Konstantinos Varvagiannis edited their review of gene: PRKAR1B: Changed publications: https://doi.org/10.1101/2020.09.10.20190314, 25414040
Mendeliome v0.5229 PRKAR1B Konstantinos Varvagiannis gene: PRKAR1B was added
gene: PRKAR1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 25414040
Phenotypes for gene: PRKAR1B were set to Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure
Penetrance for gene: PRKAR1B were set to unknown
Review for gene: PRKAR1B was set to AMBER
Added comment: Please consider inclusion of this gene with amber rating pending publication of the preprint and/or additional evidence.

Marbach et al. (2020 - medRxiv : https://doi.org/10.1101/2020.09.10.20190314 - last author : C. Schaaf) report 6 unrelated individuals with heterozygous missense PRKAR1B variants.

All presented formal ASD diagnosis (6/6), global developmental delay (6/6) and intellectual disability (all - formal evaluations were lacking though). Additional features included neurologic anomalies (movement disorders : dyspraxia, apraxia, clumsiness in all, with tremor/dystonia or involuntary movements as single occurrences). Three displayed high pain tolerance. Regression in speech was a feature in two. Additional behavior anomalies included ADHD (4-5/6) or aggression (3/6). There was no consistent pattern of malformations, physical anomalies or facial features (with the exception of uplsanted palpebral fissures reported in 4).

3 different missense variants were identified (NM_00116470:c.1003C>T - p.Arg335Trp, c.586G>A - p.Glu196Lys, c.500_501delAAinsTT - p.Gln167Leu) with Arg355Trp being a recurrent one within this cohort (4/6 subjects). A possible splicing effect may apply for the MNV. All variants are absent from gnomAD and the SNVs had CADD scores > 24.

In all cases were parental samples were available (5/6), the variant had occurred as a de novo event.

Protein kinase A (PKA) is a tetrameric holoenzyme formed by the association of 2 catalytic (C) subunits with a regulatory (R) subunit dimer. Activation of PKA is achieved through binding of 2 cAMP molecules to each R-subunit, and unleashing(/dissociation) of C-subunits to engage substrates. PRKACA/B genes encode the Cα- and Cβ-subunits while the 4 functionally non-redundant regulatory subunits are encoded by PRKAR1A/1B/2A/2B genes. As the authors comment, the RIβ subunit is primarily expressed in brain with higher expression in cortex and hypothalamus.

The functional consequences of the variants at cellular level were not studied.

Previous studies have demonstrated that downregulation of RIβ in murine hippocampal cultures, reduced phosphorylation of CREB, a transcription factor involved in long-term memory formation. The authors speculate that a similar effect on cAMP/PKA/CREB cascade may mediate the cognitive effects in humans. RIβ deficient mice also display diminished nociceptive pain, similar to the human phenotype. [Several refs provided].

The authors cite the study by Kaplanis et al (2020 - PMID: 33057194), where in a large sample of 31,058 trio exomes of children with developmental disorders, PRKAR1B was among the genes with significant enrichment for de novo missense variants. [The gene has a pLI score of 0.18 in gnomAD / o/e = 0.26 - so pLoF variants may not be deleterious].

Please note that a specific PRKAR1B variant (NM_002735.2:c.149T>G - p.Leu50Arg) has been previous reported to segregate with a late-onset neurodegenerative disorder characterized by dementia and/or parkinsonism within a large pedigree with 12 affected individuals [Wong et al 2014 - PMID: 25414040].
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3128 PRKAR1B Konstantinos Varvagiannis gene: PRKAR1B was added
gene: PRKAR1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 33057194
Phenotypes for gene: PRKAR1B were set to Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure
Penetrance for gene: PRKAR1B were set to unknown
Review for gene: PRKAR1B was set to AMBER
Added comment: Please consider inclusion of this gene with amber rating pending publication of the preprint and/or additional evidence.

Marbach et al. (2020 - medRxiv : https://doi.org/10.1101/2020.09.10.20190314 - last author : C. Schaaf) report 6 unrelated individuals with heterozygous missense PRKAR1B variants.

All presented formal ASD diagnosis (6/6), global developmental delay (6/6) and intellectual disability (all - formal evaluations were lacking though). Additional features included neurologic anomalies (movement disorders : dyspraxia, apraxia, clumsiness in all, with tremor/dystonia or involuntary movements as single occurrences). Three displayed high pain tolerance. Regression in speech was a feature in two. Additional behavior anomalies included ADHD (4-5/6) or aggression (3/6). There was no consistent pattern of malformations, physical anomalies or facial features (with the exception of uplsanted palpebral fissures reported in 4).

3 different missense variants were identified (NM_00116470:c.1003C>T - p.Arg335Trp, c.586G>A - p.Glu196Lys, c.500_501delAAinsTT - p.Gln167Leu) with Arg355Trp being a recurrent one within this cohort (4/6 subjects). A possible splicing effect may apply for the MNV. All variants are absent from gnomAD and the SNVs had CADD scores > 24.

In all cases were parental samples were available (5/6), the variant had occurred as a de novo event.

Protein kinase A (PKA) is a tetrameric holoenzyme formed by the association of 2 catalytic (C) subunits with a regulatory (R) subunit dimer. Activation of PKA is achieved through binding of 2 cAMP molecules to each R-subunit, and unleashing(/dissociation) of C-subunits to engage substrates. PRKACA/B genes encode the Cα- and Cβ-subunits while the 4 functionally non-redundant regulatory subunits are encoded by PRKAR1A/1B/2A/2B genes. As the authors comment, the RIβ subunit is primarily expressed in brain with higher expression in cortex and hypothalamus.

The functional consequences of the variants at cellular level were not studied.

Previous studies have demonstrated that downregulation of RIβ in murine hippocampal cultures, reduced phosphorylation of CREB, a transcription factor involved in long-term memory formation. The authors speculate that a similar effect on cAMP/PKA/CREB cascade may mediate the cognitive effects in humans. RIβ deficient mice also display diminished nociceptive pain, similar to the human phenotype. [Several refs provided].

The authors cite the study by Kaplanis et al (2020 - PMID: 33057194), where in a large sample of 31,058 trio exomes of children with developmental disorders, PRKAR1B was among the genes with significant enrichment for de novo missense variants. [The gene has a pLI score of 0.18 in gnomAD / o/e = 0.26 - so pLoF variants may not be deleterious].

Please note that a specific PRKAR1B variant (NM_002735.2:c.149T>G - p.Leu50Arg) has been previous reported to segregate with a late-onset neurodegenerative disorder characterized by dementia and/or parkinsonism within a large pedigree with 12 affected individuals [Wong et al 2014 - PMID: 25414040].
Sources: Literature
Liver Failure_Paediatric v0.57 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Liver Failure_Paediatric v0.57 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.57 GFM1 Zornitza Stark Classified gene: GFM1 as Green List (high evidence)
Liver Failure_Paediatric v0.57 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.56 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFM1 were set to 31680380; 23430926
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, MIM# 609060
Review for gene: GFM1 was set to GREEN
Added comment: Multi-system mitochondrial disorder, predominantly neurological features with or without hepatic involvement. Liver failure reported.
Sources: Expert list
Mendeliome v0.5229 NR1H4 Zornitza Stark Marked gene: NR1H4 as ready
Mendeliome v0.5229 NR1H4 Zornitza Stark Gene: nr1h4 has been classified as Green List (High Evidence).
Mendeliome v0.5229 NR1H4 Zornitza Stark Phenotypes for gene: NR1H4 were changed from to Cholestasis, progressive familial intrahepatic, 5, MIM# 617049
Mendeliome v0.5228 NR1H4 Zornitza Stark Publications for gene: NR1H4 were set to
Mendeliome v0.5227 NR1H4 Zornitza Stark Mode of inheritance for gene: NR1H4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5226 NR1H4 Zornitza Stark reviewed gene: NR1H4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26888176, 32443034; Phenotypes: Cholestasis, progressive familial intrahepatic, 5, MIM# 617049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.186 NR1H4 Zornitza Stark Marked gene: NR1H4 as ready
Cholestasis v0.186 NR1H4 Zornitza Stark Gene: nr1h4 has been classified as Green List (High Evidence).
Cholestasis v0.186 NR1H4 Zornitza Stark Phenotypes for gene: NR1H4 were changed from to Cholestasis, progressive familial intrahepatic, 5, MIM# 617049
Cholestasis v0.185 NR1H4 Zornitza Stark Publications for gene: NR1H4 were set to
Cholestasis v0.184 NR1H4 Zornitza Stark Mode of inheritance for gene: NR1H4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.183 NR1H4 Zornitza Stark reviewed gene: NR1H4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26888176, 32443034; Phenotypes: Cholestasis, progressive familial intrahepatic, 5, MIM# 617049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Liver Failure_Paediatric v0.55 NR1H4 Zornitza Stark Marked gene: NR1H4 as ready
Liver Failure_Paediatric v0.55 NR1H4 Zornitza Stark Gene: nr1h4 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.55 NR1H4 Zornitza Stark Classified gene: NR1H4 as Green List (high evidence)
Liver Failure_Paediatric v0.55 NR1H4 Zornitza Stark Gene: nr1h4 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.54 NR1H4 Zornitza Stark gene: NR1H4 was added
gene: NR1H4 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NR1H4 were set to 26888176; 32443034
Phenotypes for gene: NR1H4 were set to Cholestasis, progressive familial intrahepatic, 5, MIM# 617049
Review for gene: NR1H4 was set to GREEN
Added comment: Autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy.

At least 5 unrelated families reported.
Sources: Expert list
Liver Failure_Paediatric v0.53 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Liver Failure_Paediatric v0.53 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.53 JAG1 Zornitza Stark Classified gene: JAG1 as Green List (high evidence)
Liver Failure_Paediatric v0.53 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.52 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JAG1 were set to Alagille syndrome, MIM# 118450
Review for gene: JAG1 was set to GREEN
Added comment: Well established gene disease association. Severity of liver disease is variable but includes progressive liver failure.
Sources: Expert list
Mendeliome v0.5226 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Mendeliome v0.5226 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Mendeliome v0.5226 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from to Pancreatic agenesis 2, MIM# 615935; Pancreatic and cerebellar agenesis, MIM# 609069
Mendeliome v0.5225 PTF1A Zornitza Stark Publications for gene: PTF1A were set to
Mendeliome v0.5224 PTF1A Zornitza Stark Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5223 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24212882, 21749365, 10507728, 15543146, 19650412; Phenotypes: Pancreatic agenesis 2, MIM# 615935, Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Liver Failure_Paediatric v0.51 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Liver Failure_Paediatric v0.51 PTF1A Zornitza Stark Gene: ptf1a has been classified as Red List (Low Evidence).
Liver Failure_Paediatric v0.51 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTF1A were set to 24212882
Phenotypes for gene: PTF1A were set to Pancreatic agenesis 2, MIM# 615935
Review for gene: PTF1A was set to RED
Added comment: 14 affected individuals from 10 families with isolated pancreatic hypoplasia or agenesis reported. Patients were typically diagnosed with insulin-dependent diabetes mellitus at birth or in infancy, although 2 individuals were diagnosed at ages 8 and 10 years, respectively, and 1 at 22 years of age. All patients also had pancreatic exocrine insufficiency, with low or undetectable stool elastase in all who were tested. Pancreatic hypoplasia or agenesis was documented by ultrasound, CT, or MRI in the 9 patients studied. No neurologic features were reported, except for 1 patient who exhibited mild developmental delay, and no other abnormalities were reported, except for 1 patient who had fatal cholestatic liver failure
Sources: Expert list
Liver Failure_Paediatric v0.50 FH Zornitza Stark Marked gene: FH as ready
Liver Failure_Paediatric v0.50 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.50 FH Zornitza Stark Phenotypes for gene: FH were changed from to Fumarase deficiency, MIM#606812
Liver Failure_Paediatric v0.49 FH Zornitza Stark Classified gene: FH as Green List (high evidence)
Liver Failure_Paediatric v0.49 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.48 FH Zornitza Stark edited their review of gene: FH: Changed phenotypes: Fumarase deficiency, MIM#606812
Liver Failure_Paediatric v0.48 FH Zornitza Stark gene: FH was added
gene: FH was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: FH was set to GREEN
Added comment: Autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy. Cholestasis, liver fibrosis and failure reported.
Sources: Expert list
Mendeliome v0.5223 MPP5 Zornitza Stark Marked gene: MPP5 as ready
Mendeliome v0.5223 MPP5 Zornitza Stark Gene: mpp5 has been classified as Green List (High Evidence).
Mendeliome v0.5223 MPP5 Zornitza Stark Classified gene: MPP5 as Green List (high evidence)
Mendeliome v0.5223 MPP5 Zornitza Stark Gene: mpp5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3128 MPP5 Zornitza Stark Marked gene: MPP5 as ready
Intellectual disability syndromic and non-syndromic v0.3128 MPP5 Zornitza Stark Gene: mpp5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3128 MPP5 Zornitza Stark Classified gene: MPP5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3128 MPP5 Zornitza Stark Gene: mpp5 has been classified as Green List (High Evidence).
Mendeliome v0.5222 MPP5 Konstantinos Varvagiannis gene: MPP5 was added
gene: MPP5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MPP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MPP5 were set to 33073849
Phenotypes for gene: MPP5 were set to Global developmental delay; Intellectual disability; Delayed speech and language development; Developmental regression; Behavioral abnormality
Penetrance for gene: MPP5 were set to unknown
Review for gene: MPP5 was set to GREEN
Added comment: Sterling et al (2020 - PMID: 33073849) provide information on the phenotype of 3 individuals with de novo MPP5 variants.

Common features included global developmental delay, intellectual disability (3/3 - severe in 2/3), speech delay/regression (the latter in at least 2) and behavioral abnormalities. Variable other features were reported, among others microcephaly (1/3), abnormal vision (1/3 : CVI, retinal dystrophy, nystagmus), brain MRI abnormalities (2/3), late-onset seizures (1/3). These subjects displayed variable and non-specific dysmorphic features.

All were investigated by exome sequencing (previous investigations not mentioned).

One subject was found to harbor a de novo mosaic (5/25 reads) stopgain variant, further confirmed by Sanger sequencing [NM_022474.4:c.1555C>T - p.(Arg519Ter). The specific variant is reported once in gnomAD (1/251338). Two de novo missense variants were identified in the remaining individuals [c.1289A>G - p.Glu430Gly / c.974A>C - p.His325Pro). All variants had in silico predictions in favor of a deleterious effect (CADD score >24).

The authors comment that MPP5 encodes an apical complex protein with asymmetric localization to the apical side of polarized cells. It is expressed in brain, peripheral nervous system and other tissues. MPP5 is a member of the membrane-associated guanylate kinase family of proteins (MAGUK p55 subfamily), determining cell polarity at tight junctions.

Previous animal models suggest that complete Mpp5(Pals1) KO in mice leads to near absence of cerebral cortical neurons. Htz KO display reduction in size of cerebral cortex and hippocampus. The gene is expressed in proliferating cell populations of cerebellum and important for establishment cerebellar architecture. Conditional KO of Mpp5(Pals1) in retinal progenitor cells mimics the retinal pathology observed in LCA. [Several refs. provided]

The authors studied a heterozygous CNS-specific Mpp5 KO mouse model. These mice presented microcephaly, decreased cerebellar volume and cortical thickness, decreased ependymal cells and Mpp5 at the apical surface of cortical vertrical zone. The proportion of cortical cells undergoing apoptotic cell death was increased. Mice displayed behavioral abnormalities (hyperactivity) and visual deficits, with ERG traces further suggesting retinal blindness.

Overall the mouse model was thought to recapitulate the behavioral abnormalities observed in affected subjects as well as individual rare features such as microcephaly and abnormal vision.

Haploinsufficiency (rather than a dominant negative effect) is favored as the underlying disease mechanism. This is also in line with a dose dependent effect observed in mice.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3127 MPP5 Konstantinos Varvagiannis gene: MPP5 was added
gene: MPP5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MPP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MPP5 were set to 33073849
Phenotypes for gene: MPP5 were set to Global developmental delay; Intellectual disability; Delayed speech and language development; Developmental regression; Behavioral abnormality
Penetrance for gene: MPP5 were set to unknown
Review for gene: MPP5 was set to GREEN
Added comment: Sterling et al (2020 - PMID: 33073849) provide information on the phenotype of 3 individuals with de novo MPP5 variants.

Common features included global developmental delay, intellectual disability (3/3 - severe in 2/3), speech delay/regression (the latter in at least 2) and behavioral abnormalities. Variable other features were reported, among others microcephaly (1/3), abnormal vision (1/3 : CVI, retinal dystrophy, nystagmus), brain MRI abnormalities (2/3), late-onset seizures (1/3). These subjects displayed variable and non-specific dysmorphic features.

All were investigated by exome sequencing (previous investigations not mentioned).

One subject was found to harbor a de novo mosaic (5/25 reads) stopgain variant, further confirmed by Sanger sequencing [NM_022474.4:c.1555C>T - p.(Arg519Ter). The specific variant is reported once in gnomAD (1/251338). Two de novo missense variants were identified in the remaining individuals [c.1289A>G - p.Glu430Gly / c.974A>C - p.His325Pro). All variants had in silico predictions in favor of a deleterious effect (CADD score >24).

The authors comment that MPP5 encodes an apical complex protein with asymmetric localization to the apical side of polarized cells. It is expressed in brain, peripheral nervous system and other tissues. MPP5 is a member of the membrane-associated guanylate kinase family of proteins (MAGUK p55 subfamily), determining cell polarity at tight junctions.

Previous animal models suggest that complete Mpp5(Pals1) KO in mice leads to near absence of cerebral cortical neurons. Htz KO display reduction in size of cerebral cortex and hippocampus. The gene is expressed in proliferating cell populations of cerebellum and important for establishment cerebellar architecture. Conditional KO of Mpp5(Pals1) in retinal progenitor cells mimics the retinal pathology observed in LCA. [Several refs. provided]

The authors studied a heterozygous CNS-specific Mpp5 KO mouse model. These mice presented microcephaly, decreased cerebellar volume and cortical thickness, decreased ependymal cells and Mpp5 at the apical surface of cortical vertrical zone. The proportion of cortical cells undergoing apoptotic cell death was increased. Mice displayed behavioral abnormalities (hyperactivity) and visual deficits, with ERG traces further suggesting retinal blindness.

Overall the mouse model was thought to recapitulate the behavioral abnormalities observed in affected subjects as well as individual rare features such as microcephaly and abnormal vision.

Haploinsufficiency (rather than a dominant negative effect) is favored as the underlying disease mechanism. This is also in line with a dose dependent effect observed in mice.
Sources: Literature
Liver Failure_Paediatric v0.47 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Liver Failure_Paediatric v0.47 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.47 TALDO1 Zornitza Stark Classified gene: TALDO1 as Green List (high evidence)
Liver Failure_Paediatric v0.47 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.46 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TALDO1 were set to 29923087; 23315216; 26238251; 18331807
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency, MIM#606003
Review for gene: TALDO1 was set to GREEN
Added comment: Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure. More than 5 unrelated families reported.
Sources: Expert list
Cholestasis v0.183 AKR1D1 Zornitza Stark Marked gene: AKR1D1 as ready
Cholestasis v0.183 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence).
Cholestasis v0.183 AKR1D1 Zornitza Stark Phenotypes for gene: AKR1D1 were changed from to Bile acid synthesis defect, congenital, 2, MIM# 235555
Cholestasis v0.182 AKR1D1 Zornitza Stark Publications for gene: AKR1D1 were set to
Cholestasis v0.181 AKR1D1 Zornitza Stark Mode of inheritance for gene: AKR1D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.180 AKR1D1 Zornitza Stark reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5222 AKR1D1 Zornitza Stark Marked gene: AKR1D1 as ready
Mendeliome v0.5222 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence).
Mendeliome v0.5222 AKR1D1 Zornitza Stark Phenotypes for gene: AKR1D1 were changed from to Bile acid synthesis defect, congenital, 2, MIM# 235555
Mendeliome v0.5221 AKR1D1 Zornitza Stark Publications for gene: AKR1D1 were set to
Mendeliome v0.5220 AKR1D1 Zornitza Stark Mode of inheritance for gene: AKR1D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5219 AKR1D1 Zornitza Stark reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Liver Failure_Paediatric v0.45 AKR1D1 Zornitza Stark Publications for gene: AKR1D1 were set to 12970144
Liver Failure_Paediatric v0.44 AKR1D1 Zornitza Stark edited their review of gene: AKR1D1: Changed publications: 12970144, 20522910; Changed phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555
Liver Failure_Paediatric v0.44 AKR1D1 Zornitza Stark Marked gene: AKR1D1 as ready
Liver Failure_Paediatric v0.44 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.44 AKR1D1 Zornitza Stark Classified gene: AKR1D1 as Green List (high evidence)
Liver Failure_Paediatric v0.44 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.43 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1D1 were set to 12970144
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, MIM# 235555
Review for gene: AKR1D1 was set to GREEN
Added comment: Severe intrahepatic cholestasis progressing to liver failure. More than 3 unrelated families reported.
Sources: Expert list
Liver Failure_Paediatric v0.42 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Liver Failure_Paediatric v0.42 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.42 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence)
Liver Failure_Paediatric v0.42 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.41 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A13 were set to 21424115; 11343052
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, MIM# 605814
Review for gene: SLC25A13 was set to GREEN
Added comment: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most individuals show spontaneous improvement by 1 year of age. However, some individuals may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease.

Well established gene-disease association.
Sources: Expert list
Mendeliome v0.5219 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Mendeliome v0.5219 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Mendeliome v0.5219 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from to Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719
Mendeliome v0.5218 SCYL1 Zornitza Stark Publications for gene: SCYL1 were set to
Mendeliome v0.5217 SCYL1 Zornitza Stark Mode of inheritance for gene: SCYL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5216 SCYL1 Zornitza Stark Deleted their comment
Mendeliome v0.5216 SCYL1 Zornitza Stark commented on gene: SCYL1: Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur. More than 5 unrelated families reported.
Liver Failure_Paediatric v0.40 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Liver Failure_Paediatric v0.40 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.40 SCYL1 Zornitza Stark Classified gene: SCYL1 as Green List (high evidence)
Liver Failure_Paediatric v0.40 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v0.39 SCYL1 Zornitza Stark gene: SCYL1 was added
gene: SCYL1 was added to Liver Failure_Paediatric. Sources: Expert list
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL1 were set to 26581903; 29419818; 30531813
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, MIM#616719
Review for gene: SCYL1 was set to GREEN
Added comment: Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur.

More than 5 unrelated families reported.
Sources: Expert list