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Neurotransmitter Defects v0.51 GPHN Zornitza Stark Classified gene: GPHN as Red List (low evidence)
Neurotransmitter Defects v0.51 GPHN Zornitza Stark Gene: gphn has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.50 GPHN Zornitza Stark reviewed gene: GPHN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency C, MIM# 615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.36 GLRB Zornitza Stark Marked gene: GLRB as ready
Paroxysmal Dyskinesia v0.36 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.36 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Paroxysmal Dyskinesia v0.35 GLRB Zornitza Stark Publications for gene: GLRB were set to
Paroxysmal Dyskinesia v0.34 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.33 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858, 27843043; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3905 GLRB Zornitza Stark Marked gene: GLRB as ready
Mendeliome v0.3905 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Mendeliome v0.3905 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Mendeliome v0.3904 GLRB Zornitza Stark Publications for gene: GLRB were set to
Mendeliome v0.3903 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3902 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858, 27843043; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.27 GLRB Zornitza Stark Marked gene: GLRB as ready
Brain Channelopathies v0.27 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Brain Channelopathies v0.27 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Brain Channelopathies v0.26 GLRB Zornitza Stark Publications for gene: GLRB were set to
Neurotransmitter Defects v0.50 GLRB Zornitza Stark Publications for gene: GLRB were set to 21391991; 11929858
Neurotransmitter Defects v0.49 GLRB Zornitza Stark edited their review of gene: GLRB: Changed publications: 21391991, 11929858, 27843043
Brain Channelopathies v0.25 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.24 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858, 27843043; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.49 GLRB Zornitza Stark Marked gene: GLRB as ready
Neurotransmitter Defects v0.49 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.49 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Neurotransmitter Defects v0.48 GLRB Zornitza Stark Publications for gene: GLRB were set to
Neurotransmitter Defects v0.47 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.46 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.33 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Paroxysmal Dyskinesia v0.33 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.33 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Paroxysmal Dyskinesia v0.32 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Paroxysmal Dyskinesia v0.31 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.30 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3902 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3901 GLRA1 Zornitza Stark edited their review of gene: GLRA1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3901 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Mendeliome v0.3901 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Mendeliome v0.3901 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Mendeliome v0.3900 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Mendeliome v0.3899 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3898 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.24 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Brain Channelopathies v0.24 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Brain Channelopathies v0.24 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Brain Channelopathies v0.23 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Brain Channelopathies v0.22 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.46 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Brain Channelopathies v0.21 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.45 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Neurotransmitter Defects v0.44 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.43 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.43 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Neurotransmitter Defects v0.43 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.43 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Neurotransmitter Defects v0.42 GCH1 Zornitza Stark Mode of inheritance for gene: GCH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.41 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2864 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Intellectual disability syndromic and non-syndromic v0.2864 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2864 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681
Intellectual disability syndromic and non-syndromic v0.2863 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Intellectual disability syndromic and non-syndromic v0.2862 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2861 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.793 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Genetic Epilepsy v0.793 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.793 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681
Genetic Epilepsy v0.792 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Genetic Epilepsy v0.791 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.790 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3898 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Mendeliome v0.3898 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Green List (High Evidence).
Mendeliome v0.3898 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681
Mendeliome v0.3897 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Mendeliome v0.3896 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3895 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.41 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Neurotransmitter Defects v0.41 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.41 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681
Neurotransmitter Defects v0.40 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Neurotransmitter Defects v0.39 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.38 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2861 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Intellectual disability syndromic and non-syndromic v0.2861 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2861 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Intellectual disability syndromic and non-syndromic v0.2860 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Intellectual disability syndromic and non-syndromic v0.2859 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2858 GABRB3 Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.790 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Genetic Epilepsy v0.790 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.790 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Genetic Epilepsy v0.789 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Genetic Epilepsy v0.788 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.787 GABRB3 Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3895 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Mendeliome v0.3895 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Mendeliome v0.3895 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Mendeliome v0.3894 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Mendeliome v0.3893 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3892 GABRB3 Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark changed review comment from: GABA receptor. Multiple unrelated families reported.; to: GABA receptor. Multiple unrelated families reported. Onset of multiple seizures types within the first year of life, and variable intellectual disability.
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Neurotransmitter Defects v0.37 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Neurotransmitter Defects v0.36 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.35 GABRB3 Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.35 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Neurotransmitter Defects v0.35 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.35 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19, MIM# 615744
Neurotransmitter Defects v0.34 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Neurotransmitter Defects v0.33 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.32 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24623842; Phenotypes: Epileptic encephalopathy, early infantile, 19, MIM# 615744; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.136 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Regression v0.136 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Regression v0.136 FOLR1 Zornitza Stark Classified gene: FOLR1 as Green List (high evidence)
Regression v0.136 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Regression v0.135 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Regression. Sources: Expert list
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 19732866; 30420205; 27743887
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Review for gene: FOLR1 was set to GREEN
Added comment: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2858 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Intellectual disability syndromic and non-syndromic v0.2858 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2858 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Intellectual disability syndromic and non-syndromic v0.2857 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Intellectual disability syndromic and non-syndromic v0.2856 FOLR1 Zornitza Stark Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2855 FOLR1 Zornitza Stark reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866, 30420205, 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.787 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Genetic Epilepsy v0.787 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.787 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Genetic Epilepsy v0.786 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Genetic Epilepsy v0.785 FOLR1 Zornitza Stark Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.784 FOLR1 Zornitza Stark reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866, 30420205, 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3892 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Mendeliome v0.3892 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Mendeliome v0.3892 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Mendeliome v0.3891 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Mendeliome v0.3890 FOLR1 Zornitza Stark Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3889 FOLR1 Zornitza Stark reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866, 30420205, 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Classified gene: FOLR1 as Green List (high evidence)
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.31 FOLR1 Zornitza Stark changed review comment from: Folate is a neurotransmitter precursor. Treatable condition.
Sources: Expert list; to: Folate is a neurotransmitter precursor. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
Sources: Expert list
Neurotransmitter Defects v0.31 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Neurotransmitter Defects. Sources: Expert list
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 19732866; 30420205; 27743887
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Review for gene: FOLR1 was set to GREEN
Added comment: Folate is a neurotransmitter precursor. Treatable condition.
Sources: Expert list
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence)
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.29 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Neurotransmitter Defects. Sources: Expert list
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC12 were set to 28132689; 30139987; 28892570
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384
Review for gene: DNAJC12 was set to GREEN
Added comment: Over 10 families reported with non-BH4-deficient hyperphenylalaninemia (HPANBH4), an autosomal recessive disorder characterised by increased serum phenylalanine (HPA) usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities, such as dystonia, and variably impaired intellectual development. Laboratory analysis shows dopamine and serotonin deficiencies in the CSF, and normal tetrahydrobiopterin (BH4) metabolism. Treatment with BH4 and neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy. Can present with juvenile- or adult-onset dopa-responsive nonprogressive parkinsonism.
Sources: Expert list
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Marked gene: DHFR as ready
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Classified gene: DHFR as Green List (high evidence)
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.27 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Neurotransmitter Defects. Sources: Expert list
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310276; 21310277
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Review for gene: DHFR was set to GREEN
Added comment: Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the haematologic findings of megaloblastic anaemia and variable neurologic symptoms, ranging from severe developmental delay and generalised seizures in infancy to childhood absence epilepsy with learning difficulties to lack of symptoms. CSF shows markedly decreased 5-methyltetrahydrofolate (5-MTHF) and low tetrahydrobiopterin (BH4), the latter a cofactor required for the synthesis of dopamine and serotonin.
Sources: Expert list
Neurotransmitter Defects v0.26 DDC Zornitza Stark Marked gene: DDC as ready
Neurotransmitter Defects v0.26 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.26 DDC Zornitza Stark Phenotypes for gene: DDC were changed from to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Neurotransmitter Defects v0.25 DDC Zornitza Stark Publications for gene: DDC were set to
Neurotransmitter Defects v0.24 DDC Zornitza Stark Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.23 DDC Zornitza Stark reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3889 DBH Zornitza Stark Marked gene: DBH as ready
Mendeliome v0.3889 DBH Zornitza Stark Gene: dbh has been classified as Green List (High Evidence).
Mendeliome v0.3889 DBH Zornitza Stark Phenotypes for gene: DBH were changed from to Dopamine beta-hydroxylase deficiency, MIM#223360
Mendeliome v0.3888 DBH Zornitza Stark Publications for gene: DBH were set to
Mendeliome v0.3887 DBH Zornitza Stark Mode of inheritance for gene: DBH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3886 DBH Zornitza Stark reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.784 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Genetic Epilepsy v0.784 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.23 DBH Zornitza Stark Marked gene: DBH as ready
Neurotransmitter Defects v0.23 DBH Zornitza Stark Gene: dbh has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.23 DBH Zornitza Stark Phenotypes for gene: DBH were changed from to Dopamine beta-hydroxylase deficiency, MIM#223360
Neurotransmitter Defects v0.22 DBH Zornitza Stark Publications for gene: DBH were set to
Neurotransmitter Defects v0.21 DBH Zornitza Stark Mode of inheritance for gene: DBH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.20 DBH Zornitza Stark reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.19 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Genetic Epilepsy v0.784 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607
Genetic Epilepsy v0.783 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Genetic Epilepsy v0.782 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.781 ARHGEF9 Zornitza Stark reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3886 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Mendeliome v0.3886 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Green List (High Evidence).
Mendeliome v0.3886 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607
Mendeliome v0.3885 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Mendeliome v0.3884 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3883 ARHGEF9 Zornitza Stark reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.18 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Neurotransmitter Defects v0.18 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.18 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607
Neurotransmitter Defects v0.17 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Neurotransmitter Defects v0.16 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.15 ARHGEF9 Zornitza Stark Classified gene: ARHGEF9 as Red List (low evidence)
Neurotransmitter Defects v0.15 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.14 ARHGEF9 Zornitza Stark reviewed gene: ARHGEF9: Rating: RED; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.14 ALPL Zornitza Stark Marked gene: ALPL as ready
Neurotransmitter Defects v0.14 ALPL Zornitza Stark Gene: alpl has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.14 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia
Neurotransmitter Defects v0.13 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.12 ALPL Zornitza Stark Classified gene: ALPL as Red List (low evidence)
Neurotransmitter Defects v0.12 ALPL Zornitza Stark Gene: alpl has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.11 ALPL Zornitza Stark reviewed gene: ALPL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3883 STAT5B Zornitza Stark Marked gene: STAT5B as ready
Mendeliome v0.3883 STAT5B Zornitza Stark Gene: stat5b has been classified as Green List (High Evidence).
Mendeliome v0.3883 STAT5B Zornitza Stark Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency, MIM# 245590
Mendeliome v0.3882 STAT5B Zornitza Stark Publications for gene: STAT5B were set to
Mendeliome v0.3881 STAT5B Zornitza Stark Mode of pathogenicity for gene: STAT5B was changed from to Other
Mendeliome v0.3880 STAT5B Zornitza Stark Mode of inheritance for gene: STAT5B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3879 STAT5B Zornitza Stark reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29844444; Phenotypes: Growth hormone insensitivity with immunodeficiency, MIM# 245590; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.49 TPMT David Metz commented on gene: TPMT: In newborn infants, peripheral blood TPMT activity is 50% greater than in race-matched adults and shows a distribution of activity consistent with the polymorphism characterized in adults.
Neurotransmitter Defects v0.11 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Neurotransmitter Defects v0.11 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.11 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100
Neurotransmitter Defects v0.10 ALDH7A1 Zornitza Stark Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.9 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3879 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Mendeliome v0.3879 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Mendeliome v0.3879 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Mendeliome v0.3878 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Mendeliome v0.3877 ALDH5A1 Zornitza Stark Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3876 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.781 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Genetic Epilepsy v0.781 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.781 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Genetic Epilepsy v0.780 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Genetic Epilepsy v0.779 ALDH5A1 Zornitza Stark Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.778 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.9 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Neurotransmitter Defects v0.9 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.9 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Neurotransmitter Defects v0.8 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Neurotransmitter Defects v0.7 ALDH5A1 Zornitza Stark Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.6 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3876 ABAT Zornitza Stark Marked gene: ABAT as ready
Mendeliome v0.3876 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Mendeliome v0.3876 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163; mtDNA depletion syndrome (MDS)
Mendeliome v0.3875 ABAT Zornitza Stark Publications for gene: ABAT were set to
Mendeliome v0.3874 ABAT Zornitza Stark Deleted their comment
Mendeliome v0.3874 ABAT Zornitza Stark edited their review of gene: ABAT: Added comment: Bi-allelic variants in ABAT are associated with a neurotransmitter disorder. However, there are also reports of families with encephalomyopathic MDS caused by bi-allelic variants in ABAT resulting in elevated GABA in subjects' brains as well as decreased mtDNA levels in subjects' fibroblasts. Nucleoside rescue and co-IP experiments demonstrate that ABAT functions in the mitochondrial nucleoside salvage pathway to facilitate conversion of dNDPs to dNTPs. Unclear whether this a distinct disorder or part of a continuum caused by the enzyme being part of two pathways.; Changed publications: 25738457, 27903293, 28411234, 27596361, 20052547, 10407778, 6148708; Changed phenotypes: GABA-transaminase deficiency, MIM# 613163, mtDNA depletion syndrome (MDS)
Mendeliome v0.3874 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.9 ABAT Zornitza Stark Marked gene: ABAT as ready
Congenital Diarrhoea v0.9 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.9 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163
Congenital Diarrhoea v0.8 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.7 ABAT Zornitza Stark Classified gene: ABAT as Red List (low evidence)
Congenital Diarrhoea v0.7 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.6 ABAT Zornitza Stark reviewed gene: ABAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GABA-transaminase deficiency, MIM# 613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.192 ABAT Zornitza Stark Marked gene: ABAT as ready
Callosome v0.192 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Callosome v0.192 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163
Callosome v0.191 ABAT Zornitza Stark Publications for gene: ABAT were set to
Callosome v0.190 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.189 ABAT Zornitza Stark Classified gene: ABAT as Red List (low evidence)
Callosome v0.189 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Callosome v0.188 ABAT Zornitza Stark changed review comment from: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype; to: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype. However, predominant MRI finding is that of abnormal myelination. In a series of 10 individuals in PMID 28411234, none had CC abnormalities. CC abnormalities appear to have only been reported in a single individual in PMID 10407778.
Callosome v0.188 ABAT Zornitza Stark edited their review of gene: ABAT: Changed rating: RED; Changed publications: 10407778, 20052547, 27596361, 28411234
Mitochondrial disease v0.463 ABAT Zornitza Stark Marked gene: ABAT as ready
Mitochondrial disease v0.463 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Mitochondrial disease v0.463 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to mtDNA depletion syndrome (MDS)
Mitochondrial disease v0.462 ABAT Zornitza Stark Publications for gene: ABAT were set to
Mitochondrial disease v0.461 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.460 ABAT Zornitza Stark reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 25738457, 27903293; Phenotypes: mtDNA depletion syndrome (MDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.6 ABAT Zornitza Stark Marked gene: ABAT as ready
Neurotransmitter Defects v0.6 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.6 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163
Neurotransmitter Defects v0.5 ABAT Zornitza Stark Publications for gene: ABAT were set to
Neurotransmitter Defects v0.4 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.3 ABAT Zornitza Stark reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28411234, 27596361, 20052547, 10407778, 6148708; Phenotypes: GABA-transaminase deficiency, MIM# 613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark reviewed gene: LMBRD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Seizures, Abnormality of nervous system morphology, Abnormality of the eye; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark Marked gene: LMBRD2 as ready
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Mendeliome v0.3873 LMBRD2 Zornitza Stark Marked gene: LMBRD2 as ready
Mendeliome v0.3873 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Mendeliome v0.3873 LMBRD2 Zornitza Stark Classified gene: LMBRD2 as Green List (high evidence)
Mendeliome v0.3873 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Mendeliome v0.3872 LMBRD2 Zornitza Stark gene: LMBRD2 was added
gene: LMBRD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMBRD2 were set to 32820033; https://doi.org/10.1101/797787
Phenotypes for gene: LMBRD2 were set to Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Mode of pathogenicity for gene: LMBRD2 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: LMBRD2 was set to GREEN
Added comment: 13 individuals with dn missense SNVs overall, overlapping features for 10 with available phenotype / a recurring variant has been identified in 2 different studies.

► Malhotra et al (2020 - PMID: 32820033) report on 10 unrelated individuals with de novo missense LMBRD2 variants. Features included DD (9/10), ID (6/8 of relevant age), microcephaly (7/10), seizures (5/10 - >=3 different variants), structural brain abnormalities (e.g. thin CC in 6/9), highly variable ocular abnormalities (5/10) and dysmorphic features in some (7/10 - nonspecific). All had variable prior non-diagnostic genetic tests (CMA, gene panel, mendeliome, karyotype). WES/WGS revealed LMBRD2 missense variants, in all cases de novo. A single individual had additional variants with weaker evidence of pathogenicity. 5 unique missense SNVs and 2 recurrent ones (NM_001007527:c.367T>C - p.Trp123Arg / c.1448G>A - p.Arg483His) were identified. These occurred in different exons. Variants were not present in gnomAD and all had several in silico predictions in favor of a deleterious effect. There was phenotypic variability among individuals with the same variant (e.g. seizures in 1/3 and microchephaly in 2/3 of those harboring R483H). The gene has a pLI of 0 (although o/e ranges from 0.23 to 0.55), %HI of 15.13 and z-score of 2.27. The authors presume that haploinsufficiency may not apply, and consider a gain-of-function/dominant-negative effect more likely. As the authors comment LMBRD2 (LMBR1 domain containing 2) encodes a membrane bound protein with poorly described function. It is widely expressed across tissues with notable expression in human brain (also in Drosophila, or Xenopus laevis). It displays high interspecies conservation. It has been suggested (Paek et al - PMID: 28388415) that LMBRD2 is a potential regulator of β2 adrenoreceptor signalling through involvement in GPCR signalling.

► Kaplanis et al (2020 - https://doi.org/10.1101/797787) in a dataset of 31058 parent-offspring trios (WES) previously identified 3 individuals with developmental disorder, harboring c.1448G>A - p.Arg483His. These individuals (1 from the DDD study, and 2 GeneDx patients) appear in Decipher. [ https://decipher.sanger.ac.uk/ddd/research-variant/40e17c78cc9655a6721006fc1e0c98db/overview ]. The preprint by Kaplanis et al is cited by Malhotra et al, with Arg483His reported in 6 patients overall in both studies.
Sources: Literature
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark Classified gene: LMBRD2 as Green List (high evidence)
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark reviewed gene: LMBRD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark Marked gene: LMBRD2 as ready
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark Classified gene: LMBRD2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.145 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Cerebellar and Pontocerebellar Hypoplasia v0.144 KAT5 Zornitza Stark Publications for gene: KAT5 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.143 KAT5 Zornitza Stark Mode of pathogenicity for gene: KAT5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cerebellar and Pontocerebellar Hypoplasia v0.142 KAT5 Zornitza Stark Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.141 KAT5 Zornitza Stark Classified gene: KAT5 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.141 KAT5 Zornitza Stark Gene: kat5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.140 KAT5 Zornitza Stark edited their review of gene: KAT5: Added comment: Cerebellar atrophy reported in 2 of 3 individuals.; Changed rating: AMBER; 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: 32822602; Changed phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3871 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Mendeliome v0.3870 KAT5 Zornitza Stark Publications for gene: KAT5 were set to
Mendeliome v0.3869 KAT5 Zornitza Stark Mode of pathogenicity for gene: KAT5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.3868 KAT5 Zornitza Stark Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3867 KAT5 Zornitza Stark Classified gene: KAT5 as Green List (high evidence)
Mendeliome v0.3867 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.777 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Genetic Epilepsy v0.777 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.777 KAT5 Zornitza Stark Classified gene: KAT5 as Green List (high evidence)
Genetic Epilepsy v0.777 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2854 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Intellectual disability syndromic and non-syndromic v0.2853 KAT5 Zornitza Stark Publications for gene: KAT5 were set to
Intellectual disability syndromic and non-syndromic v0.2852 KAT5 Zornitza Stark Mode of pathogenicity for gene: KAT5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.2851 KAT5 Zornitza Stark Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2850 KAT5 Zornitza Stark Classified gene: KAT5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2850 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2849 KAT5 Konstantinos Varvagiannis reviewed gene: KAT5: 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: 32822602; Phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.3866 KAT5 Konstantinos Varvagiannis reviewed gene: KAT5: 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: 32822602; Phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.776 KAT5 Konstantinos Varvagiannis gene: KAT5 was added
gene: KAT5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KAT5 were set to 32822602
Phenotypes for gene: KAT5 were set to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Penetrance for gene: KAT5 were set to unknown
Mode of pathogenicity for gene: KAT5 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: KAT5 was set to GREEN
Added comment: Humbert el al (2020 - PMID: 32822602) report 3 individuals with de novo missense KAT5 variants.

Features included severe DD (3/3) and ID (2/2 - the 3rd was 18m on last examination), microcephaly (2/3), behavioral anomalies (3/3) including severe sleep disorder (3/3 - table S1 / night walking, sleep onset delay, excessive daytime sleepiness), seizures (3/3 - variable type and age of onset), brain MRI abnormalities (3/3 - CC, cerebellar atrophy each in 2 subjects, focal polymicrogyria in 1), various genitourinary anomalies (3/3). All had moderately short stature (-1.95 SD to -2.9SD). Cleft LP and submucous cleft P were observed in 2/3. Facial features included round face, flat profile, depressed nasal bridge, downturned corners of mouth and prognathism (each in at least 2 subjects).

KAT5 encodes a lysine acetyltransferase involved in gene expression, DNA repair, chromatine remodeling, apoptosis and cell proliferation. It is part of the NuA4 histone acetyltransferase (HAT) complex also called TIP60/p400 (TIP60 being another name for KAT5). Regulation by histone acetylation is important for proper development.

3 missense KAT5 SNVs were identified, one within the chromobarrel domain (aa 7-65 / NM_006388.3) and 2 in the acetyl-CoA binding domain (aa 365-420).

Following generation of K562 cells expressing either WT or variants, it was demonstrated that wt/mt KAT5 assemble normally into NuA4/TIP60 complexes. Histone acetyltransferase activity was however impaired for all variants, suggesting a partial loss of function mechanism.

As Humbert et al comment, it is possible that KAT5 haploinsufficiency does not lead to a
syndrome. Over 10 high-confidence LoF variants are listed in gnomAD. Heterozygous Kat5 ko mice have normal development, growth and fertility. Homozygous ko mice are embryonic lethal. In haploinsufficient mice, reduction of mRNA to 50% has been shown to be compensated at the protein level in adipose and/or other tissues (several studies cited).

RNA-Seq in fibroblasts from 2 affected individuals revealed dysregulation of highly relevant genes (e.g. for neurodevelopment, circadian clock, etc).

Mutations in KAT6A/B, encoding two other acetyltransferases cause neurodevelopmental disorders with features overlapping those observed in individuals with KAT5 variants (e.g. DD/ID, microcephaly, seizures, sleep disturbance, clefts, CC or genital anomalies).

Consider inclusion in the ID and epilepsy panels with green rating as well as the gene panel for clefting with amber.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2849 LMBRD2 Konstantinos Varvagiannis gene: LMBRD2 was added
gene: LMBRD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMBRD2 were set to 32820033; https://doi.org/10.1101/797787
Phenotypes for gene: LMBRD2 were set to Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Penetrance for gene: LMBRD2 were set to unknown
Mode of pathogenicity for gene: LMBRD2 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: LMBRD2 was set to AMBER
Added comment: You may consider inclusion with green (13 individuals with dn missense SNVs overall, overlapping features for 10 with available phenotype / a recurring variant has been identified in 2 different studies) or amber rating (role of the gene not known, no variant studies, animal model probably not available).

► Malhotra et al (2020 - PMID: 32820033) report on 10 unrelated individuals with de novo missense LMBRD2 variants.

Features included DD (9/10), ID (6/8 of relevant age), microcephaly (7/10), seizures (5/10 - >=3 different variants), structural brain abnormalities (e.g. thin CC in 6/9), highly variable ocular abnormalities (5/10) and dysmorphic features in some (7/10 - nonspecific).

All had variable prior non-diagnostic genetic tests (CMA, gene panel, mendeliome, karyotype). WES/WGS revealed LMBRD2 missense variants, in all cases de novo. A single individual had additional variants with weaker evidence of pathogenicity.

5 unique missense SNVs and 2 recurrent ones (NM_001007527:c.367T>C - p.Trp123Arg / c.1448G>A - p.Arg483His) were identified. These occurred in different exons. Variants were not present in gnomAD and all had several in silico predictions in favor of a deleterious effect.

There was phenotypic variability among individuals with the same variant (e.g. seizures in 1/3 and microchephaly in 2/3 of those harboring R483H).

The gene has a pLI of 0 (although o/e ranges from 0.23 to 0.55), %HI of 15.13 and z-score of 2.27. The authors presume that haploinsufficiency may not apply, and consider a gain-of-function/dominant-negative effect more likely.

As the authors comment LMBRD2 (LMBR1 domain containing 2) encodes a membrane bound protein with poorly described function. It is widely expressed across tissues with notable expression in human brain (also in Drosophila, or Xenopus laevis). It displays high interspecies conservation.

It has been suggested (Paek et al - PMID: 28388415) that LMBRD2 is a potential regulator of β2 adrenoreceptor signalling through involvement in GPCR signalling.

► Kaplanis et al (2020 - https://doi.org/10.1101/797787) in a dataset of 31058 parent-offspring trios (WES) previously identified 3 individuals with developmental disorder, harboring c.1448G>A - p.Arg483His. These individuals (1 from the DDD study, and 2 GeneDx patients) appear in Decipher. [ https://decipher.sanger.ac.uk/ddd/research-variant/40e17c78cc9655a6721006fc1e0c98db/overview ]. The preprint by Kaplanis et al is cited by Malhotra et al, with Arg483His reported in 6 patients overall in both studies.
Sources: Literature
Genetic Epilepsy v0.776 LMBRD2 Konstantinos Varvagiannis gene: LMBRD2 was added
gene: LMBRD2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMBRD2 were set to 32820033; https://doi.org/10.1101/797787
Phenotypes for gene: LMBRD2 were set to Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Penetrance for gene: LMBRD2 were set to unknown
Mode of pathogenicity for gene: LMBRD2 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: LMBRD2 was set to AMBER
Added comment: You may consider inclusion with green (13 individuals with dn missense SNVs overall, overlapping features for 10 with available phenotype / a recurring variant has been identified in 2 different studies) or amber rating (role of the gene not known, no variant studies, animal model probably not available).

► Malhotra et al (2020 - PMID: 32820033) report on 10 unrelated individuals with de novo missense LMBRD2 variants.

Features included DD (9/10), ID (6/8 of relevant age), microcephaly (7/10), seizures (5/10 - >=3 different variants), structural brain abnormalities (e.g. thin CC in 6/9), highly variable ocular abnormalities (5/10) and dysmorphic features in some (7/10 - nonspecific).

All had variable prior non-diagnostic genetic tests (CMA, gene panel, mendeliome, karyotype). WES/WGS revealed LMBRD2 missense variants, in all cases de novo. A single individual had additional variants with weaker evidence of pathogenicity.

5 unique missense SNVs and 2 recurrent ones (NM_001007527:c.367T>C - p.Trp123Arg / c.1448G>A - p.Arg483His) were identified. These occurred in different exons. Variants were not present in gnomAD and all had several in silico predictions in favor of a deleterious effect.

There was phenotypic variability among individuals with the same variant (e.g. seizures in 1/3 and microchephaly in 2/3 of those harboring R483H).

The gene has a pLI of 0 (although o/e ranges from 0.23 to 0.55), %HI of 15.13 and z-score of 2.27. The authors presume that haploinsufficiency may not apply, and consider a gain-of-function/dominant-negative effect more likely.

As the authors comment LMBRD2 (LMBR1 domain containing 2) encodes a membrane bound protein with poorly described function. It is widely expressed across tissues with notable expression in human brain (also in Drosophila, or Xenopus laevis). It displays high interspecies conservation.

It has been suggested (Paek et al - PMID: 28388415) that LMBRD2 is a potential regulator of β2 adrenoreceptor signalling through involvement in GPCR signalling.

► Kaplanis et al (2020 - https://doi.org/10.1101/797787) in a dataset of 31058 parent-offspring trios (WES) previously identified 3 individuals with developmental disorder, harboring c.1448G>A - p.Arg483His. These individuals (1 from the DDD study, and 2 GeneDx patients) appear in Decipher. [ https://decipher.sanger.ac.uk/ddd/research-variant/40e17c78cc9655a6721006fc1e0c98db/overview ]. The preprint by Kaplanis et al is cited by Malhotra et al, with Arg483His reported in 6 patients overall in both studies.
Sources: Literature
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Marked gene: ALPK3 as ready
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Classified gene: ALPK3 as Amber List (moderate evidence)
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.185 ALPK3 Zornitza Stark gene: ALPK3 was added
gene: ALPK3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 26846950
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM# 618052
Review for gene: ALPK3 was set to AMBER
Added comment: Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950.
Sources: Expert list
Hydrops fetalis v0.184 BRAF Zornitza Stark Marked gene: BRAF as ready
Hydrops fetalis v0.184 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Hydrops fetalis v0.184 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from to Cardiofaciocutaneous syndrome, MIM# 115150
Hydrops fetalis v0.183 BRAF Zornitza Stark Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hydrops fetalis v0.182 BRAF Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.181 BRAF Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.181 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Hydrops fetalis v0.181 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.181 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis, MIM# 228000
Hydrops fetalis v0.180 ASAH1 Zornitza Stark Publications for gene: ASAH1 were set to
Hydrops fetalis v0.179 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.178 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26578498; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.178 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Hydrops fetalis v0.178 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
Hydrops fetalis v0.178 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NIPBL were set to 30712880
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1, MIM# 122470
Review for gene: NIPBL was set to RED
Added comment: Single case presenting as hydrops reported in PAGE study.
Sources: Expert list
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Gene: fras1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Classified gene: FRAS1 as Amber List (moderate evidence)
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Gene: fras1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.176 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRAS1 were set to 27859469
Phenotypes for gene: FRAS1 were set to Fraser syndrome 1, MIM# 219000
Review for gene: FRAS1 was set to AMBER
Added comment: In a series of 38 antenatally ascertained cases, 9 had hydrops. However, 11/38 had molecular testing, and only 8 had molecularly confirmed diagnosis (FRAS1 variants, none in FREM2 or GRIP1).
Sources: Expert list
Hydrops fetalis v0.175 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
Hydrops fetalis v0.174 CLCNKB Zornitza Stark changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report of hydrops identified.
Sources: Expert list
Hydrops fetalis v0.174 CLCNKB Zornitza Stark edited their review of gene: CLCNKB: Changed publications: 23484775
Hydrops fetalis v0.174 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Hydrops fetalis v0.173 CLCNKA Zornitza Stark changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report found.
Sources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report of hydrops found.
Sources: Expert list
Hydrops fetalis v0.173 CLCNKA Zornitza Stark changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report found.
Sources: Expert list
Hydrops fetalis v0.173 CLCNKA Zornitza Stark edited their review of gene: CLCNKA: Changed publications: 23484775
Hydrops fetalis v0.173 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Hydrops fetalis v0.173 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.173 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 16450351
Phenotypes for gene: LAMB2 were set to Pierson syndrome, MIM# 609049
Review for gene: LAMB2 was set to RED
Added comment: Single family reported with antenatal presentation in four pregnancies, one had hydrops.
Sources: Expert list
Hydrops fetalis v0.172 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Hydrops fetalis v0.172 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.172 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESCO2 were set to 16547991
Phenotypes for gene: ESCO2 were set to Roberts syndrome, MIM# 268300
Review for gene: ESCO2 was set to RED
Added comment: Single case report, diagnosis of Roberts syndrome not molecularly confirmed. Pregnancy complicated by T18 in other twin.
Sources: Expert list
Hydrops fetalis v0.171 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Hydrops fetalis v0.171 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.171 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35D1 were set to 11200994
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, MIM# 269250
Review for gene: SLC35D1 was set to RED
Added comment: Single case report of hydrops, no molecular testing.
Sources: Expert list
Polydactyly v0.175 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Polydactyly v0.175 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Polydactyly v0.175 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Polydactyly v0.174 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Polydactyly v0.173 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.172 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.170 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Hydrops fetalis v0.170 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.170 NEK1 Zornitza Stark edited their review of gene: NEK1: Changed rating: RED; Changed phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Hydrops fetalis v0.170 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK1 were set to 7491205; 15605271
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Review for gene: NEK1 was set to AMBER
Added comment: Hydrops reported but not in molecularly confirmed cases.
Sources: Expert list
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Classified gene: DYNC2H1 as Amber List (moderate evidence)
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.168 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to 27925158
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
Review for gene: DYNC2H1 was set to AMBER
Added comment: Two families reported with severe antenatal presentation including chylothorax, ascites, oedema.
Sources: Expert list
Hydrops fetalis v0.167 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Hydrops fetalis v0.167 IFT122 Zornitza Stark Gene: ift122 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.167 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT122 were set to 28370949
Phenotypes for gene: IFT122 were set to Beemer-Langer syndrome
Review for gene: IFT122 was set to RED
Added comment: Single case report of a presentation consistent with the severe ciliopathy Beemer-Langer syndrome, and mild generalised oedema identified antenatally.
Sources: Expert list
Hydrops fetalis v0.166 UROS Zornitza Stark changed review comment from: Hydrops is a listed feature in reviews of this condition, but cannot find specific case reports.
Sources: Expert list; to: Hydrops is a listed feature in reviews of this condition. Two cases reported in PMID 12533808, but only a single variant identified so diagnosis not molecularly confirmed.
Sources: Expert list
Hydrops fetalis v0.166 UROS Zornitza Stark edited their review of gene: UROS: Changed publications: 24027798, 12533808; Changed phenotypes: Porphyria, congenital erythropoietic, MIM# 263700
Hydrops fetalis v0.166 ITGA9 Zornitza Stark Marked gene: ITGA9 as ready
Hydrops fetalis v0.166 ITGA9 Zornitza Stark Gene: itga9 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.166 ITGA9 Zornitza Stark Tag disputed tag was added to gene: ITGA9.
Hydrops fetalis v0.166 ITGA9 Zornitza Stark gene: ITGA9 was added
gene: ITGA9 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ITGA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITGA9 were set to 21584887
Phenotypes for gene: ITGA9 were set to Chylothorax
Review for gene: ITGA9 was set to RED
Added comment: The p.Gly404Ser variant reported in PMID 21584887 in association with chylothorax in multiple fetuses is present in 672 hets and 11 homs in gnomad, which is out of keeping for a rare Mendelian disorder.
Sources: Expert list
Mendeliome v0.3866 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Mendeliome v0.3866 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Mendeliome v0.3866 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977
Mendeliome v0.3865 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Mendeliome v0.3864 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3863 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181, 30389403, 32219868, 32600459, 32548275; Phenotypes: Spastic ataxia 5, autosomal recessive (MIM#614487), Spinocerebellar ataxia 28 (MIM#610246), Optic atrophy 12, MIM# 618977; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.113 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.112 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Autosomal dominant optic atrophy; Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246) to Optic atrophy 12, MIM# 618977
Optic Atrophy v0.111 AFG3L2 Zornitza Stark edited their review of gene: AFG3L2: Changed rating: GREEN; Changed phenotypes: Optic atrophy 12, MIM# 618977; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3863 MYOD1 Zornitza Stark Marked gene: MYOD1 as ready
Mendeliome v0.3863 MYOD1 Zornitza Stark Gene: myod1 has been classified as Green List (High Evidence).
Mendeliome v0.3863 MYOD1 Zornitza Stark Classified gene: MYOD1 as Green List (high evidence)
Mendeliome v0.3863 MYOD1 Zornitza Stark Gene: myod1 has been classified as Green List (High Evidence).
Mendeliome v0.3862 MYOD1 Zornitza Stark gene: MYOD1 was added
gene: MYOD1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566
Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975
Review for gene: MYOD1 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Marked gene: MT-RNR2 as ready
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Classified gene: MT-RNR2 as Red List (low evidence)
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.459 MT-RNR2 Chern Lim gene: MT-RNR2 was added
gene: MT-RNR2 was added to Mitochondrial disease. Sources: Expert Review,Literature
Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL
Publications for gene: MT-RNR2 were set to 29233888
Review for gene: MT-RNR2 was set to RED
Added comment: Disease association not established (PMID:29233888 and in-house expert review).
Sources: Expert Review, Literature
Intellectual disability syndromic and non-syndromic v0.2849 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Intellectual disability syndromic and non-syndromic v0.2849 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2849 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Intellectual disability syndromic and non-syndromic v0.2848 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Intellectual disability syndromic and non-syndromic v0.2847 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2846 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.134 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Regression v0.134 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Red List (Low Evidence).
Regression v0.134 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Regression v0.133 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Regression v0.132 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.131 TMEM237 Zornitza Stark Classified gene: TMEM237 as Red List (low evidence)
Regression v0.131 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Red List (Low Evidence).
Regression v0.130 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: RED; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.113 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Renal Ciliopathies and Nephronophthisis v0.113 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.113 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Renal Ciliopathies and Nephronophthisis v0.112 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Renal Ciliopathies and Nephronophthisis v0.111 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.110 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.172 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Polydactyly v0.172 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Polydactyly v0.172 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Polydactyly v0.171 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Polydactyly v0.170 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3861 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Mendeliome v0.3861 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Mendeliome v0.3861 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Mendeliome v0.3860 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3859 TMEM237 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.; to: Well established gene-disease association.
Ciliopathies v0.205 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Ciliopathies v0.205 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Ciliopathies v0.205 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Ciliopathies v0.204 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Ciliopathies v0.203 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.202 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.86 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Joubert syndrome and other neurological ciliopathies v0.86 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.86 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Joubert syndrome and other neurological ciliopathies v0.85 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Joubert syndrome and other neurological ciliopathies v0.84 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.83 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Classified gene: NOD2 as Green List (high evidence)
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.27 NOD2 Zornitza Stark gene: NOD2 was added
gene: NOD2 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: NOD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NOD2 were set to 11385576; 17804789
Phenotypes for gene: NOD2 were set to {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321
Review for gene: NOD2 was set to GREEN
Added comment: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease.
Sources: Expert Review
Chronic granulomatous disease v0.11 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Chronic granulomatous disease v0.11 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.11 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from Blau syndrome MIM#186580 to Blau syndrome MIM#186580; granulomatous disease
Chronic granulomatous disease v0.10 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Chronic granulomatous disease v0.9 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26164256; Phenotypes: Blau syndrome syndrome, MIM# 186580, granulomatous disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.90 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Autoinflammatory Disorders v0.90 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.90 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580
Autoinflammatory Disorders v0.89 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Autoinflammatory Disorders v0.88 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.87 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15459013; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.23 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Vasculitis v0.23 NOD2 Zornitza Stark Gene: nod2 has been classified as Red List (Low Evidence).
Vasculitis v0.23 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580
Vasculitis v0.22 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Vasculitis v0.21 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.20 NOD2 Zornitza Stark Classified gene: NOD2 as Red List (low evidence)
Vasculitis v0.20 NOD2 Zornitza Stark Gene: nod2 has been classified as Red List (Low Evidence).
Vasculitis v0.19 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: RED; Mode of pathogenicity: None; Publications: 15459013, 23699845; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3859 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Mendeliome v0.3859 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Mendeliome v0.3859 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580
Mendeliome v0.3858 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Mendeliome v0.3857 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3856 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15459013; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3856 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Mendeliome v0.3856 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
Mendeliome v0.3856 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from to Craniofacial-deafness-hand syndrome (MIM#122880), AD 2; Waardenburg syndrome, type 1 (MIM#193500), AD; Waardenburg syndrome, type 3 (MIM#148820), AD, AR
Mendeliome v0.3855 PAX3 Zornitza Stark Publications for gene: PAX3 were set to
Mendeliome v0.3854 PAX3 Zornitza Stark Mode of inheritance for gene: PAX3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2846 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Intellectual disability syndromic and non-syndromic v0.2846 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2846 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from to Koolen-De Vries syndrome (MIM#610443)
Intellectual disability syndromic and non-syndromic v0.2845 KANSL1 Zornitza Stark Publications for gene: KANSL1 were set to
Intellectual disability syndromic and non-syndromic v0.2844 KANSL1 Zornitza Stark Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2843 KANSL1 Zornitza Stark reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544363; Phenotypes: Koolen-De Vries syndrome (MIM#610443); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3853 KANSL1 Zornitza Stark reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544363; Phenotypes: Koolen-De Vries syndrome (MIM#610443); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3853 KANSL1 Zornitza Stark Tag SV/CNV tag was added to gene: KANSL1.
Mendeliome v0.3853 KANSL1 Zornitza Stark Publications for gene: KANSL1 were set to
Mendeliome v0.3852 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from to Koolen-De Vries syndrome (MIM#610443)
Mendeliome v0.3851 KANSL1 Zornitza Stark Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.21 Zornitza Stark Panel name changed from Brain channelopathy to Brain Channelopathies
Skeletal Muscle Channelopathies v0.11 CASQ1 Zornitza Stark Marked gene: CASQ1 as ready
Skeletal Muscle Channelopathies v0.11 CASQ1 Zornitza Stark Gene: casq1 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.11 CASQ1 Zornitza Stark Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with casq1 aggregates to Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231
Skeletal Muscle Channelopathies v0.10 CASQ1 Zornitza Stark Classified gene: CASQ1 as Red List (low evidence)
Skeletal Muscle Channelopathies v0.10 CASQ1 Zornitza Stark Gene: casq1 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.9 CASQ1 Zornitza Stark reviewed gene: CASQ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v0.9 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Skeletal Muscle Channelopathies v0.9 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.9 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 30423015
Phenotypes for gene: ATP1A2 were set to Hypokalaemic periodic paralysis
Review for gene: ATP1A2 was set to RED
Added comment: Gene is classically associated with brain phenotypes such as alternating hemiplegia, but single report of hypokalaemia periodic paralysis with supporting functional data.
Sources: Expert list
Brain Channelopathies v0.19 Zornitza Stark Panel name changed from Channelopathy to Brain channelopathy
Brain Channelopathies v0.18 Zornitza Stark removed gene:SCN4A from the panel
Skeletal Muscle Channelopathies v0.8 SCN4A Zornitza Stark Marked gene: SCN4A as ready
Skeletal Muscle Channelopathies v0.8 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.8 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Skeletal Muscle Channelopathies v0.7 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.17 SCN4A Zornitza Stark Marked gene: SCN4A as ready
Brain Channelopathies v0.17 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Brain Channelopathies v0.17 SCN4A Zornitza Stark Phenotypes for gene: SCN4A were changed from to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345
Brain Channelopathies v0.16 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Brain Channelopathies v0.15 SCN4A Zornitza Stark Mode of inheritance for gene: SCN4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.14 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.14 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Brain Channelopathies v0.14 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Brain Channelopathies v0.14 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from to Myoclonus, familial, 2, MIM# 618364; epilepsy; paroxysmal kinesigenic dyskinesias
Brain Channelopathies v0.13 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Brain Channelopathies v0.12 SCN8A Zornitza Stark Mode of inheritance for gene: SCN8A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.11 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29726066, 27098556; Phenotypes: Myoclonus, familial, 2, MIM# 618364, epilepsy, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.11 KCNMA1 Zornitza Stark Marked gene: KCNMA1 as ready
Brain Channelopathies v0.11 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Brain Channelopathies v0.11 KCNMA1 Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446
Brain Channelopathies v0.10 KCNMA1 Zornitza Stark Publications for gene: KCNMA1 were set to
Brain Channelopathies v0.9 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.8 KCNMA1 Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15937479, 26195193; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.8 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Brain Channelopathies v0.8 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Brain Channelopathies v0.8 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to Andersen syndrome, MIM# 170390
Brain Channelopathies v0.7 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Brain Channelopathies v0.6 KCNJ2 Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.5 KCNJ2 Zornitza Stark reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16217063, 16571646, 16419128, 17324964; Phenotypes: Andersen syndrome, MIM# 170390; Mode of inheritance: None
Mendeliome v0.3850 PAX3 Michelle Torres reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301703, 30854529; Phenotypes: Craniofacial-deafness-hand syndrome (MIM#122880), AD 2, Rhabdomyosarcoma 2, alveolar (MIM#268220), SMu, Waardenburg syndrome, type 1 (MIM#193500), AD, Waardenburg syndrome, type 3 (MIM#148820), AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3850 KANSL1 Michelle Torres reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Koolen-De Vries syndrome (MIM#610443); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3850 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Mendeliome v0.3850 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Mendeliome v0.3850 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565
Mendeliome v0.3849 ESRRB Zornitza Stark Publications for gene: ESRRB were set to
Mendeliome v0.3848 ESRRB Zornitza Stark Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3847 ESRRB Zornitza Stark reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179891, 31389194, 32681043; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.377 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Deafness_IsolatedAndComplex v0.377 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.377 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565
Deafness_IsolatedAndComplex v0.376 ESRRB Zornitza Stark Publications for gene: ESRRB were set to
Deafness_IsolatedAndComplex v0.375 ESRRB Zornitza Stark Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.374 ESRRB Zornitza Stark reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179891, 31389194, 32681043; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v0.14 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Deafness_Isolated v0.14 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Deafness_Isolated v0.14 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565
Deafness_Isolated v0.13 ESRRB Zornitza Stark Publications for gene: ESRRB were set to
Deafness_Isolated v0.12 ESRRB Zornitza Stark Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.165 EBP Zornitza Stark changed review comment from: XLD. Listed as a cause of hydrops in a review, cannot find reported cases.
Sources: Expert list; to: XLD. Listed as a cause of hydrops in a review, but can only find a single reported case.
Sources: Expert list
Hydrops fetalis v0.165 EBP Zornitza Stark edited their review of gene: EBP: Changed publications: 23137060, 25754886; Changed phenotypes: Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Hydrops fetalis v0.165 ARSE Zornitza Stark Marked gene: ARSE as ready
Hydrops fetalis v0.165 ARSE Zornitza Stark Gene: arse has been classified as Red List (Low Evidence).
Hydrops fetalis v0.165 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Review for gene: ARSE was set to RED
Added comment: Cannot find reports linking with hydrops.
Sources: Expert list
Deafness_Isolated v0.11 ESRRB Michelle Torres reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179891, 31389194, 32681043; Phenotypes: Deafness, autosomal recessive 35 MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.164 ARSA Zornitza Stark Marked gene: ARSA as ready
Hydrops fetalis v0.164 ARSA Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence).
Hydrops fetalis v0.164 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM# 250100
Review for gene: ARSA was set to RED
Added comment: MLD is a lysosomal disorder and several lysosomal disorders can present with hydrops. However symptom onset for MLD is typically 6-12 months, and I cannot find reports of hydrops associated with variants in ARSA.
Sources: Expert list
Mendeliome v0.3847 HNRNPA2B1 Zornitza Stark Marked gene: HNRNPA2B1 as ready
Mendeliome v0.3847 HNRNPA2B1 Zornitza Stark Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3847 HNRNPA2B1 Zornitza Stark Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Mendeliome v0.3847 HNRNPA2B1 Zornitza Stark Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3846 HNRNPA2B1 Zornitza Stark gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965
Phenotypes for gene: HNRNPA2B1 were set to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
Review for gene: HNRNPA2B1 was set to AMBER
Added comment: One family reported that segregates cognitive impairment as part of the phenotype, and extensive functional analysis of protein, including a drosophila model.
Sources: Literature
Mendeliome v0.3845 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Mendeliome v0.3845 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3845 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Mendeliome v0.3845 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3844 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness; cataract
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Cataract v0.227 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Cataract v0.227 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Cataract v0.227 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Cataract v0.227 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Cataract v0.226 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Cataract. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness; cataract
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.373 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness; cataract
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Early-onset Dementia v0.63 HNRNPA2B1 Bryony Thompson Marked gene: HNRNPA2B1 as ready
Early-onset Dementia v0.63 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.63 HNRNPA2B1 Bryony Thompson Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Early-onset Dementia v0.63 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.62 HNRNPA2B1 Bryony Thompson gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965
Phenotypes for gene: HNRNPA2B1 were set to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
Review for gene: HNRNPA2B1 was set to AMBER
Added comment: One family reported that segregates cognitive impairment as part of the phenotype, and extensive functional analysis of protein, including a drosophila model.
Sources: Literature
Early-onset Dementia v0.61 HNRNPA1 Bryony Thompson Marked gene: HNRNPA1 as ready
Early-onset Dementia v0.61 HNRNPA1 Bryony Thompson Gene: hnrnpa1 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.61 HNRNPA1 Bryony Thompson gene: HNRNPA1 was added
gene: HNRNPA1 was added to Early-onset Dementia. Sources: Other
Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPA1 were set to 24612671; 24119545; 23455423
Phenotypes for gene: HNRNPA1 were set to Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424; Amyotrophic lateral sclerosis 20 MIM#615426
Review for gene: HNRNPA1 was set to RED
Added comment: I cannot find any evidence that pathogenic variants in this gene cause dementia. The conditions associated with the gene are a pure ALS without FTD and myopathy.
Sources: Other
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Marked gene: LOR as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Classified gene: LOR as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Gene: krt2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Classified gene: KRT2 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Gene: krt2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 KRT2 Zornitza Stark reviewed gene: KRT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 LOR Paul De Fazio gene: LOR was added
gene: LOR was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LOR were set to 11703298; 9326323; 8673107; 9326398; 25234742
Phenotypes for gene: LOR were set to Vohwinkel syndrome with ichthyosis MIM#604117
Review for gene: LOR was set to GREEN
gene: LOR was marked as current diagnostic
Added comment: Multiple families reported (14, as of PMID:25234742). Honeycomb palmoplantar keratoderma (PPK) and generalized, mild ichthyosis are characteristic.

From OMIM: Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 KRT2 Paul De Fazio gene: KRT2 was added
gene: KRT2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT2 were set to 22612346; 26581228; 17970808
Phenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Review for gene: KRT2 was set to AMBER
gene: KRT2 was marked as current diagnostic
Added comment: Superficial epidermolytic ichthyosis (SEI), previously known as Ichthyosis bullosa of Siemens.
Clinical findings are similar to those of epidermolytic ichthyosis, but the phenotype is generally milder and can be quite variable in severity.

PPK is not a feature of this disease. However, according to Cervantes et al (PMID: 22612346): "Another important difference between EI [epidermolytic ichthyosis] and SEI is palmoplantar keratoderma (PPK), which affects 60% of patients with EI but is never seen with SEI. Although blistering usually spares the palms and soles in SEI, some patients have shown involvement, making it difficult to determine the clinical difference between this and PPK in EI." One case report is in PMID: 17970808.

I don't know if this belongs on this panel.
Sources: Literature
Mendeliome v0.3843 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Mendeliome v0.3843 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Mendeliome v0.3843 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM#616559, AD
Mendeliome v0.3842 SOS2 Zornitza Stark Publications for gene: SOS2 were set to
Mendeliome v0.3841 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 was changed from to Other
Mendeliome v0.3840 SOS2 Zornitza Stark Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Marked gene: CTSC as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Gene: ctsc has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Classified gene: CTSC as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Gene: ctsc has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CYP4F22 Paul De Fazio changed review comment from: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature; to: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK (PMID: 18034255). OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CYP4F22 Paul De Fazio gene: CYP4F22 was added
gene: CYP4F22 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP4F22 were set to 16436457; 18034255; 32069299
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5 MIM#604777
Review for gene: CYP4F22 was set to AMBER
gene: CYP4F22 was marked as current diagnostic
Added comment: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CTSC Paul De Fazio gene: CTSC was added
gene: CTSC was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 11106356; 32601924
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome (MIM#245000)
Review for gene: CTSC was set to GREEN
gene: CTSC was marked as current diagnostic
Added comment: Papillon-Lefevre syndrome manifests with PPK. Sufficient unrelated patients (>10) for gene-disease association.
Sources: Literature
Early-onset Dementia v0.60 CST3 Bryony Thompson Marked gene: CST3 as ready
Early-onset Dementia v0.60 CST3 Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence).
Early-onset Dementia v0.60 GSN Bryony Thompson Marked gene: GSN as ready
Early-onset Dementia v0.60 GSN Bryony Thompson Gene: gsn has been classified as Red List (Low Evidence).
Early-onset Dementia v0.60 GSN Bryony Thompson gene: GSN was added
gene: GSN was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type MIM#105120
Review for gene: GSN was set to RED
Added comment: I could not find any evidence of a gene-disease association with dementia. Hereditary motor and sensory neuropathy is reported as the neurological phenotype.
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 MBTPS2 Ain Roesley gene: MBTPS2 was added
gene: MBTPS2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to Olmsted syndrome, X-linked (MIM#300918); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); IFAP syndrome with or without BRESHECK syndrome (MIM#308205)
Penetrance for gene: MBTPS2 were set to unknown
Review for gene: MBTPS2 was set to GREEN
Added comment: Palmoplantar keratoderma is a feature of keratosis follicularis spinulosa decalvans and Olmsted syndrome.

Erythroderma is a feature of IFAP syndrome with or without BRESHECK syndrome.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Marked gene: CSTA as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Classified gene: CSTA as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Multiple joint dislocations and laxity v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Early-onset Dementia v0.59 CST3 Bryony Thompson Classified gene: CST3 as Green List (high evidence)
Early-onset Dementia v0.59 CST3 Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence).
Early-onset Dementia v0.58 CST3 Bryony Thompson changed review comment from: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele geneotype, combined OR 1.6.
Sources: Expert list; to: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele genotype, combined OR 1.6.
Sources: Expert list
Early-onset Dementia v0.58 CST3 Bryony Thompson changed review comment from: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but the combined OR for the homozygote (rs1064039) minor allele is modest risk at 1.6.
Sources: Expert list; to: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele geneotype, combined OR 1.6.
Sources: Expert list
Early-onset Dementia v0.58 CST3 Bryony Thompson gene: CST3 was added
gene: CST3 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CST3 were set to 22435454; 8866434; 2602413; 8108423
Phenotypes for gene: CST3 were set to Cerebral amyloid angiopathy MIM#105150
Mode of pathogenicity for gene: CST3 was set to Other
Review for gene: CST3 was set to GREEN
Added comment: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but the combined OR for the homozygote (rs1064039) minor allele is modest risk at 1.6.
Sources: Expert list
Mendeliome v0.3839 SOS2 Chern Lim reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26173643; Phenotypes: Noonan syndrome 9, MIM#616559, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio edited their review of gene: CSTA: Changed publications: 23534700, 21944047, 25400170, 12890214
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio edited their review of gene: CSTA: Changed rating: GREEN; Changed phenotypes: Peeling skin syndrome 4 #607936
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio changed review comment from: Associated with peeling skin syndrome. Hyperkeratosis and PPK are features.
Sources: Literature; to: Associated with peeling skin syndrome (at least 4 families). Hyperkeratosis and PPK are features.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio gene: CSTA was added
gene: CSTA was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 23534700; 21944047; 25400170
Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 #607936
gene: CSTA was marked as current diagnostic
Added comment: Associated with peeling skin syndrome. Hyperkeratosis and PPK are features.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Classified gene: CERS3 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant 302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Marked gene: EBP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Classified gene: EBP as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Classified gene: NIPAL4 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Classified gene: NSDHL as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Marked gene: CDSN as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Classified gene: CDSN as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Marked gene: PKP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Classified gene: PKP1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Marked gene: PNPLA1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Classified gene: PNPLA1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Marked gene: POMP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Classified gene: POMP as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Marked gene: SDR9C7 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.45 TAOK1 Zornitza Stark Marked gene: TAOK1 as ready
Macrocephaly_Megalencephaly v0.45 TAOK1 Zornitza Stark Gene: taok1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.45 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from to Intellectual disability; macrocephaly
Macrocephaly_Megalencephaly v0.44 TAOK1 Zornitza Stark Publications for gene: TAOK1 were set to
Macrocephaly_Megalencephaly v0.43 TAOK1 Zornitza Stark Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Classified gene: SPINK5 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CERS3 Paul De Fazio changed review comment from: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1 and PMID: 30578701 1 patient in Figure 1).
Sources: Literature; to: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1, PMID: 30578701 1 patient in Figure 1, PMID: 23754960 1 patient).
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CERS3 Paul De Fazio gene: CERS3 was added
gene: CERS3 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERS3 were set to 23754960; 30578701; 23754960
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9 (MIM#615023)
Review for gene: CERS3 was set to GREEN
gene: CERS3 was marked as current diagnostic
Added comment: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1 and PMID: 30578701 1 patient in Figure 1).
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 EBP Belinda Chong gene: EBP was added
gene: EBP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EBP were set to 10391218; 11038443; 12509714
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant 302960
Added comment: Multiple unrelated individuals with mutations in the EBP (PMID:10391218, 11038443; 12509714)

PMID: 7363504
Manzke et al. (1980) reported 3 affected girls. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life.

PMID: 12509714
Affected females had typical skin manifestations an all but 1 had skeletal dysplasia. Herman et al. (2002) concluded that plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 NIPAL4 Ain Roesley gene: NIPAL4 was added
gene: NIPAL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIPAL4 were set to 30578701
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6 (MIM#612281)
Penetrance for gene: NIPAL4 were set to unknown
Review for gene: NIPAL4 was set to GREEN
Added comment: PMID: 30578701;
- 5 families all consanguineous with 3 unique variants
- 4 have erythroderma and all 5 have PPK
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 NSDHL Ain Roesley gene: NSDHL was added
gene: NSDHL was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 15689440; 26459993
Phenotypes for gene: NSDHL were set to CHILD syndrome (MIM#308050)
Penetrance for gene: NSDHL were set to unknown
Review for gene: NSDHL was set to GREEN
Added comment: CHILD = Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

PMID: 15689440;26459993; GeneReviews
- Over 20 variants reported.

*affected females. Males are usually lethal however, few males reported including 1 mosaic (GeneReviews)
*expressivity is highly variable; in affected females, CHILD syndrome may manifest as minor skin changes only. (GeneReviews)
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CDSN Paul De Fazio edited their review of gene: CDSN: Changed rating: GREEN; Changed phenotypes: Peeling skin syndrome 1 MIM#270300
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CDSN Paul De Fazio gene: CDSN was added
gene: CDSN was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 23957618; 22146835; 20691404; 21191406
Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300
gene: CDSN was marked as current diagnostic
Added comment: Associated with peeling skin syndrome, affected individuals have skin peeling, hyperkeratosis and erythema.

At least 4 unrelated individuals reported, all with LoF variants.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 PKP1 Ain Roesley gene: PKP1 was added
gene: PKP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PKP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PKP1 were set to 32248567
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome (MIM#604536)
Penetrance for gene: PKP1 were set to unknown
Review for gene: PKP1 was set to GREEN
Added comment: PMID: 32248567
- 16 out of 18 probands presented with PPK
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2843 TAOK1 Zornitza Stark Marked gene: TAOK1 as ready
Intellectual disability syndromic and non-syndromic v0.2843 TAOK1 Zornitza Stark Gene: taok1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2843 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from to Intellectual disability; hypotonia; macrocephaly
Intellectual disability syndromic and non-syndromic v0.2842 TAOK1 Zornitza Stark Publications for gene: TAOK1 were set to
Intellectual disability syndromic and non-syndromic v0.2841 TAOK1 Zornitza Stark Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 PNPLA1 Ain Roesley gene: PNPLA1 was added
gene: PNPLA1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA1 were set to 30578701
Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10 (MIM#615024)
Penetrance for gene: PNPLA1 were set to unknown
Review for gene: PNPLA1 was set to GREEN
Added comment: PMID: 30578701;
- 19 consanguineous families with 13 unique variants
- all had erythroderma, 12 had PPK
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 POMP Ain Roesley gene: POMP was added
gene: POMP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMP were set to 20226437; 27503413; 29315485
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952)
Penetrance for gene: POMP were set to unknown
Review for gene: POMP was set to GREEN
Added comment: Also known as KLICK syndrome, it is a skin disorder characterized by palmoplantar
keratoderma, linear hyperkeratotic papules, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists.

PMID: 20226437;
Cohort of 12 KLICK patients but only 4 unrelated probands were sequenced (total of 6: 3 siblings + 3 unrelated)

PMID: 27503413;
1x proband from consanguineous parents

PMID: 29315485;
1x proband

*All reported patients have the same homozygous 1bp deletion in the 5'UTR of POMP
c.-95del
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 SDR9C7 Ain Roesley gene: SDR9C7 was added
gene: SDR9C7 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 30578701; 31633189
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 (MIM#617574)
Penetrance for gene: SDR9C7 were set to unknown
Review for gene: SDR9C7 was set to GREEN
Added comment: PMID: 30578701;
3 unrelated patients from consanguineous families with congenital ichthyosiform erythroderma

PMID: 31633189;
All 3 reported patients had mild PPK including 1x born with scaly skin with erythroderma at birth
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2840 TAOK1 Sue White commented on gene: TAOK1: Monoallelic de novo variants reported in 8 individuals with nonspecific phenotype of intellectual disability and hypotonia. Most were LOF, 2 missense. 3 had macrocephaly.
Intellectual disability syndromic and non-syndromic v0.2840 TAOK1 Sue White reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.42 TAOK1 Sue White reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 ELOVL4 Naomi Baker gene: ELOVL4 was added
gene: ELOVL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELOVL4 were set to PMID:24566826; 26258735; 30065956.
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34, MIM#133190
Review for gene: ELOVL4 was set to GREEN
Added comment: In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 SPINK5 Ain Roesley changed review comment from: Ichthyosiform erythroderma is a feature of Netherton syndrome

PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: Literature; to: Ichthyosiform erythroderma is a feature of Netherton syndrome

PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 SPINK5 Ain Roesley gene: SPINK5 was added
gene: SPINK5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK5 were set to 11841556
Phenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500)
Penetrance for gene: SPINK5 were set to unknown
Review for gene: SPINK5 was set to GREEN
Added comment: Ichthyosiform erythroderma is a feature of Netherton syndrome

PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: Literature
Mendeliome v0.3839 NCKAP1L Zornitza Stark Phenotypes for gene: NCKAP1L were changed from Immunodeficiency to Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982
Mendeliome v0.3838 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency 72 with autoinflammation, MIM# 618982
Mendeliome v0.3838 NCKAP1L Zornitza Stark reviewed gene: NCKAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 72 with autoinflammation 618982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.61 NCKAP1L Zornitza Stark Phenotypes for gene: NCKAP1L were changed from Immunodeficiency; Immune dysregulation to Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation, MIM# 618982
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation 618982
Intellectual disability syndromic and non-syndromic v0.2840 RAI1 Zornitza Stark Marked gene: RAI1 as ready
Intellectual disability syndromic and non-syndromic v0.2840 RAI1 Zornitza Stark Gene: rai1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2840 RAI1 Zornitza Stark Phenotypes for gene: RAI1 were changed from to Smith-Magenis syndrome (MIM#182290)
Intellectual disability syndromic and non-syndromic v0.2839 RAI1 Zornitza Stark Publications for gene: RAI1 were set to
Intellectual disability syndromic and non-syndromic v0.2838 RAI1 Zornitza Stark Mode of inheritance for gene: RAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2837 RAI1 Zornitza Stark reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11404004, 12652298, 15788730; Phenotypes: Smith-Magenis syndrome (MIM#182290); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3838 RAI1 Zornitza Stark Marked gene: RAI1 as ready
Mendeliome v0.3838 RAI1 Zornitza Stark Gene: rai1 has been classified as Green List (High Evidence).
Mendeliome v0.3838 RAI1 Zornitza Stark Phenotypes for gene: RAI1 were changed from to Smith-Magenis syndrome (MIM#182290)
Mendeliome v0.3837 RAI1 Zornitza Stark Publications for gene: RAI1 were set to
Mendeliome v0.3836 RAI1 Zornitza Stark Mode of inheritance for gene: RAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3835 RAI1 Kristin Rigbye reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11404004, 12652298, 15788730; Phenotypes: Smith-Magenis syndrome (MIM#182290), AD, IC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3835 TAF1C Zornitza Stark Marked gene: TAF1C as ready
Mendeliome v0.3835 TAF1C Zornitza Stark Gene: taf1c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3835 TAF1C Zornitza Stark Classified gene: TAF1C as Amber List (moderate evidence)
Mendeliome v0.3835 TAF1C Zornitza Stark Gene: taf1c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3834 TAF1C Zornitza Stark gene: TAF1C was added
gene: TAF1C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF1C were set to 32779182
Phenotypes for gene: TAF1C were set to Global developmental delay; Intellectual disability; Spasticity; Strabismus; Seizures; Abnormality of nervous system morphology
Review for gene: TAF1C was set to AMBER
Added comment: Knuutinen et al (2020 - PMID: 32779182) report on 2 individuals from 2 consanguineous families, homozygous for TAF1C missense variants. Both presented with an early onset neurological phenotype with severe global DD, ID (2/2 - moderate and profound), spasticity (2/2), ophthalmic findings (strabismus 2/2, nystagmus 1/2). Epilepsy, abnormal brain MRI (cerebral and cerebellar atrophy and white matter hyperintensities) as well and additional findings were reported in one (always the same individual). Following a normal CMA, exome in the first case revealed a homozygous missense SNV (NM_005679.3:c.1165C>T / p.Arg389Cys) supported by in silico predictions. mRNA and protein levels were substantially reduced in fibroblasts from this subject. Only the patient and parents were tested for the variant but not 3 unaffected sibs (fig1). The second individual was homozygous for another missense variant (p.Arg405Cys) also supported by in silico predictions. The girl was the single affected person within the family with an unaffected sib and parents heterozygous for the variant. Several other unaffected relatives in the extended pedigree were either carriers for this variant or homozygous for the wt allele. TAF1C encodes the TATA-box binding protein associated factor (TAF) RNA polymerase I subunit. RNA polymerase I (Pol I) transcribes genes to produce rRNA. For Pol I to initiate transcription, two transcription factors are required : UBF (upstream binding factor encoded by UBTF) and SL1 (selectivity factor 1). The latter is formed by TBP (TATA-binding protein) and 3 Pol I-specific TBP-associated factors (TAFs). A recurrent de novo missense variant in UBTF (encoding the other Pol I transcription factor) causes a disorder with highly similar features. The specific variant acts through a gain-of-function mechanism (and not by LoF which appears to apply for TAF1C based on expression data). The authors hypothesize that altered Pol I activity and resulting ribosomal stress could cause the microcephaly and leukodystrophy (both reported in 1 - the same - individual).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2837 TAF1C Zornitza Stark Classified gene: TAF1C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2837 TAF1C Zornitza Stark Gene: taf1c has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Classified gene: AP1S1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Ichthyosis v0.96 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Ichthyosis v0.96 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Ichthyosis v0.96 AP1S1 Zornitza Stark Classified gene: AP1S1 as Green List (high evidence)
Ichthyosis v0.96 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Marked gene: STS as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Added comment: Comment when marking as ready: Palms are more typically spared in STS-associated ichthyosis.
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Marked gene: STS as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Classified gene: STS as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Classified gene: ABHD5 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2836 TAF1C Konstantinos Varvagiannis gene: TAF1C was added
gene: TAF1C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF1C were set to 32779182
Phenotypes for gene: TAF1C were set to Global developmental delay; Intellectual disability; Spasticity; Strabismus; Seizures; Abnormality of nervous system morphology
Penetrance for gene: TAF1C were set to Complete
Review for gene: TAF1C was set to AMBER
Added comment: Knuutinen et al (2020 - PMID: 32779182) report on 2 individuals from 2 consanguineous families, homozygous for TAF1C missense variants.

Both presented with an early onset neurological phenotype with severe global DD, ID (2/2 - moderate and profound), spasticity (2/2), ophthalmic findings (strabismus 2/2, nystagmus 1/2). Epilepsy, abnormal brain MRI (cerebral and cerebellar atrophy and white matter hyperintensities) as well and additional findings were reported in one (always the same individual).

Following a normal CMA, exome in the first case revealed a homozygous missense SNV (NM_005679.3:c.1165C>T / p.Arg389Cys) supported by in silico predictions. mRNA and protein levels were substantially reduced in fibroblasts from this subject. Only the patient and parents were tested for the variant but not 3 unaffected sibs (fig1).

The second individual was homozygous for another missense variant (p.Arg405Cys) also supported by in silico predictions. The girl was the single affected person within the family with an unaffected sib and parents heterozygous for the variant. Several other unaffected relatives in the extended pedigree were either carriers for this variant or homozygous for the wt allele.

TAF1C encodes the TATA-box binding protein associated factor (TAF) RNA polymerase I subunit.

RNA polymerase I (Pol I) transcribes genes to produce rRNA. For Pol I to initiate transcription, two transcription factors are required : UBF (upstream binding factor encoded by UBTF) and SL1 (selectivity factor 1). The latter is formed by TBP (TATA-binding protein) and 3 Pol I-specific TBP-associated factors (TAFs).

A recurrent de novo missense variant in UBTF (encoding the other Pol I transcription factor) causes a disorder with highly similar features. The specific variant acts through a gain-of-function mechanism (and not by LoF which appears to apply for TAF1C based on expression data).

The authors hypothesize that altered Pol I activity and resulting ribosomal stress could cause the microcephaly and leukodystrophy (both reported in 1 - the same - individual).

As a result, TAF1C may be considered for inclusion in the ID panel with amber rating pending further evidence.
Sources: Literature
Mendeliome v0.3833 KALRN Zornitza Stark Marked gene: KALRN as ready
Mendeliome v0.3833 KALRN Zornitza Stark Gene: kalrn has been classified as Red List (Low Evidence).
Mendeliome v0.3833 KALRN Zornitza Stark Phenotypes for gene: KALRN were changed from to Susceptibility to coronary heart disease; Intellectual disability
Mendeliome v0.3832 KALRN Zornitza Stark Publications for gene: KALRN were set to
Mendeliome v0.3831 KALRN Zornitza Stark Mode of inheritance for gene: KALRN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3830 KALRN Zornitza Stark Classified gene: KALRN as Red List (low evidence)
Mendeliome v0.3830 KALRN Zornitza Stark Gene: kalrn has been classified as Red List (Low Evidence).
Mendeliome v0.3829 KALRN Zornitza Stark reviewed gene: KALRN: Rating: RED; Mode of pathogenicity: None; Publications: 17357071, 27421267, 30675382, 32580138; Phenotypes: Susceptibility to coronary heart disease, Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.194 PTPRJ Zornitza Stark Marked gene: PTPRJ as ready
Bleeding and Platelet Disorders v0.194 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Added comment: Comment when marking as ready: Agree unclear if PKK is a consistent feature. Gene is Green on Ichthyosis panel.
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.72 SULT2B1 Zornitza Stark Classified gene: SULT2B1 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.72 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.71 KRT9 Zornitza Stark Marked gene: KRT9 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.71 KRT9 Zornitza Stark Gene: krt9 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.71 KRT9 Zornitza Stark Phenotypes for gene: KRT9 were changed from to Palmoplantar keratoderma, epidermolytic (MIM#144200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.70 KRT9 Zornitza Stark Publications for gene: KRT9 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.69 KRT9 Zornitza Stark Mode of inheritance for gene: KRT9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.68 TAT Zornitza Stark Marked gene: TAT as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.68 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.68 TAT Zornitza Stark Phenotypes for gene: TAT were changed from to Tyrosinemia, type II (MIM#276600)
Palmoplantar Keratoderma and Erythrokeratoderma v0.67 TAT Zornitza Stark Publications for gene: TAT were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.66 TAT Zornitza Stark Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.95 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Ichthyosis v0.95 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Ichthyosis v0.95 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Ichthyosis v0.94 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Ichthyosis v0.93 TGM1 Zornitza Stark Mode of inheritance for gene: TGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.92 TGM1 Zornitza Stark reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890349, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1 (MIM#242300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Classified gene: TGM1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Ichthyosis v0.92 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Ichthyosis v0.92 MSMO1 Zornitza Stark Added comment: Comment when marking as ready: Possible phenotypic overlap but not clear.
Ichthyosis v0.92 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.92 MSMO1 Zornitza Stark Classified gene: MSMO1 as Amber List (moderate evidence)
Ichthyosis v0.92 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 VPS33B Zornitza Stark Tag founder tag was added to gene: VPS33B.
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 VPS33B Zornitza Stark reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017832, 30561130; Phenotypes: Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3829 KRT6C Zornitza Stark Marked gene: KRT6C as ready
Mendeliome v0.3829 KRT6C Zornitza Stark Gene: krt6c has been classified as Green List (High Evidence).
Mendeliome v0.3829 KRT6C Zornitza Stark Phenotypes for gene: KRT6C were changed from to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Mendeliome v0.3828 KRT6C Zornitza Stark Publications for gene: KRT6C were set to
Mendeliome v0.3827 KRT6C Zornitza Stark Mode of inheritance for gene: KRT6C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3826 KRT6C Zornitza Stark reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 KRT6C Zornitza Stark Marked gene: KRT6C as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 KRT6C Zornitza Stark Gene: krt6c has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 KRT6C Zornitza Stark Phenotypes for gene: KRT6C were changed from to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Palmoplantar Keratoderma and Erythrokeratoderma v0.62 KRT6C Zornitza Stark Publications for gene: KRT6C were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.61 KRT6C Zornitza Stark Mode of inheritance for gene: KRT6C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.91 PIGL Zornitza Stark Marked gene: PIGL as ready
Ichthyosis v0.91 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Ichthyosis v0.91 PIGL Zornitza Stark Classified gene: PIGL as Green List (high evidence)
Ichthyosis v0.91 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Marked gene: SASH1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Gene: sash1 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Classified gene: SASH1 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Gene: sash1 has been classified as Red List (Low Evidence).
Mendeliome v0.3826 KRT6B Zornitza Stark Marked gene: KRT6B as ready
Mendeliome v0.3826 KRT6B Zornitza Stark Gene: krt6b has been classified as Green List (High Evidence).
Mendeliome v0.3826 KRT6B Zornitza Stark Phenotypes for gene: KRT6B were changed from to Pachyonychia congenita 4 (MIM#615728)
Mendeliome v0.3825 KRT6B Zornitza Stark Publications for gene: KRT6B were set to
Mendeliome v0.3824 KRT6B Zornitza Stark Mode of inheritance for gene: KRT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3823 KRT6B Zornitza Stark reviewed gene: KRT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 4 (MIM#615728); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.59 KRT6B Zornitza Stark Marked gene: KRT6B as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.59 KRT6B Zornitza Stark Gene: krt6b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.59 KRT6B Zornitza Stark Phenotypes for gene: KRT6B were changed from to Pachyonychia congenita 4 (MIM#615728)
Palmoplantar Keratoderma and Erythrokeratoderma v0.58 KRT6B Zornitza Stark Publications for gene: KRT6B were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.57 KRT6B Zornitza Stark Mode of inheritance for gene: KRT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.90 AP1S1 Paul De Fazio changed review comment from: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Ichthyosis is considered characteristic.
Sources: Literature; to: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 AP1S1 Paul De Fazio gene: AP1S1 was added
gene: AP1S1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 19057675; 23423674; 30244301
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313)
Review for gene: AP1S1 was set to GREEN
gene: AP1S1 was marked as current diagnostic
Added comment: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Patients all present with hyperkeratosis.
Sources: Literature
Ichthyosis v0.90 AP1S1 Paul De Fazio gene: AP1S1 was added
gene: AP1S1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 19057675; 23423674; 30244301
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313)
Review for gene: AP1S1 was set to GREEN
gene: AP1S1 was marked as current diagnostic
Added comment: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Ichthyosis is considered characteristic.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 STS Ain Roesley gene: STS was added
gene: STS was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: STS were set to PMID: 29672931
Phenotypes for gene: STS were set to Ichthyosis, X-linked (MIM#308100)
Penetrance for gene: STS were set to unknown
Review for gene: STS was set to AMBER
Added comment: PMID: 29672931;
- cohort of 35 Italian patients
- 3 patients with mild palmoplantar keratoderma at birth - unclear what their variants are
- 27x with complete STS gene deletion
- 1x partial deletion leading to loss of exon 7
- 7x (including 3 pairs of siblings) had missense variants

* STS patients usually present with brownish thickened scales
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 ABHD5 Paul De Fazio changed review comment from: Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature; to: Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 ABHD5 Paul De Fazio gene: ABHD5 was added
gene: ABHD5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 16181472
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome (MIM#275630)
Review for gene: ABHD5 was set to RED
gene: ABHD5 was marked as current diagnostic
Added comment: Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 SULT2B1 Ain Roesley gene: SULT2B1 was added
gene: SULT2B1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SULT2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SULT2B1 were set to 28575648
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 (MIM#617571)
Penetrance for gene: SULT2B1 were set to unknown
Review for gene: SULT2B1 was set to AMBER
Added comment: PMID: 28575648;
- 6 affecteds in 3 families (including 2 consanguineous)
- In family 1: 1x presented hyperkeratosis and generalized desquamation with large, dark scales typical of the lamellar form of ARCI
- in family 2: 1x presented with hyperkeratosis and erythema.
- in family 3: 2x showed a generalized very dry, scaly skin with severe itching and erythema at birth.
> 2x missense, 1x PTV and 1x splice

PMID: 30578701;
- 2 families reported, both homozygous for a missense
- both presented with palmoplantar keratoderma and only 1 reported with erythroderma
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT9 Paul De Fazio reviewed gene: KRT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 29044727, 7512862; Phenotypes: Palmoplantar keratoderma, epidermolytic (MIM#144200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 TAT Ain Roesley reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31799120, 21145993, 18945316; Phenotypes: Tyrosinemia, type II (MIM#276600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 TGM1 Ain Roesley gene: TGM1 was added
gene: TGM1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGM1 were set to 19890349; 24261627; 30302839
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Penetrance for gene: TGM1 were set to unknown
Review for gene: TGM1 was set to GREEN
Added comment: PMID: 19890349;
- 1x patient with mild palmoplantar keratoderma in her fissures
> cHet for c.877-2A>G and p.(Arg307Gly)

PMID: 24261627;
- 11x Ecuadorian patients
- All showed ectropion, large, thick, dark, plate-like scales, palmoplantar keratoderma, and alopecia
> both missense and PTVs reported

PMID: 30302839;
- 1x Japanese man with severe lamellar ichthyosis
- his other clinical findings include palmoplantar keratoderma
> cHet for 2 missense
Sources: Literature
Ichthyosis v0.90 MSMO1 Paul De Fazio changed review comment from: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.
Sources: Literature; to: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.

There also doesn't appear to be anything published more recently.
Sources: Literature
Ichthyosis v0.90 MSMO1 Paul De Fazio gene: MSMO1 was added
gene: MSMO1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 24144731; 21285510
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834)
Review for gene: MSMO1 was set to AMBER
gene: MSMO1 was marked as current diagnostic
Added comment: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 VPS33B Ain Roesley gene: VPS33B was added
gene: VPS33B was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 28017832; 30561130
Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome
Penetrance for gene: VPS33B were set to unknown
Review for gene: VPS33B was set to AMBER
Added comment: Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome is a rare multisystem disorder caused by biallelic mutations in VPS33B

PMID: 28017832;
- 3x Austrian patients with assumed distant consanguinity
- severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness
> 2x homozygous for p.(Gly131Glu), whereas 1x patient cHet for p.(Gly131Glu) and the splice site mutation c.240-1G>C previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome

PMID: 30561130;
- 1x patient with ichthyosis, palmoplantar keratosis, hearing loss, intellectual disability, unilateral hip dislocation, microcephaly and short stature
> cHet for p.(Arg481Glyfs*11) and p.(Gly131Glu)
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT6C Ain Roesley reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.3823 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Mendeliome v0.3823 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Mendeliome v0.3823 KRT2 Zornitza Stark Phenotypes for gene: KRT2 were changed from to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Mendeliome v0.3822 KRT2 Zornitza Stark Publications for gene: KRT2 were set to
Mendeliome v0.3821 KRT2 Zornitza Stark Mode of inheritance for gene: KRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3820 KRT2 Zornitza Stark reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581228, 22612346; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.90 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Ichthyosis v0.90 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Ichthyosis v0.90 KRT2 Zornitza Stark Phenotypes for gene: KRT2 were changed from to Superficial epidermolytic ichthyosis (SEI) , MIM#146800
Ichthyosis v0.89 KRT2 Zornitza Stark Publications for gene: KRT2 were set to
Ichthyosis v0.88 KRT2 Zornitza Stark Mode of inheritance for gene: KRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Classified gene: KRT2 as Green List (high evidence)
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Mendeliome v0.3820 KRT17 Zornitza Stark Marked gene: KRT17 as ready
Mendeliome v0.3820 KRT17 Zornitza Stark Gene: krt17 has been classified as Green List (High Evidence).
Mendeliome v0.3820 KRT17 Zornitza Stark Phenotypes for gene: KRT17 were changed from to Pachyonychia congenita 2, MIM#167210; Steatocystoma multiplex, MIM# 184500
Mendeliome v0.3819 KRT17 Zornitza Stark Publications for gene: KRT17 were set to
Mendeliome v0.3818 KRT17 Zornitza Stark Mode of inheritance for gene: KRT17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3817 KRT17 Zornitza Stark edited their review of gene: KRT17: Changed phenotypes: Pachyonychia congenita 2, MIM#167210, Steatocystoma multiplex, MIM# 184500
Mendeliome v0.3817 KRT17 Zornitza Stark changed review comment from: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts. PMID: 31823354; - cohort of 815 individuals, 134 patients had variants in KRT17 - approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma; to: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts. PMID: 31823354; - cohort of 815 individuals, 134 patients had variants in KRT17 - approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma. Steatocystoma multiplex is an allelic disorder.
Mendeliome v0.3817 KRT17 Zornitza Stark reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 2, MIM#167210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Marked gene: KRT17 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Gene: krt17 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Phenotypes for gene: KRT17 were changed from to Pachyonychia congenita 2 (MIM#167210)
Palmoplantar Keratoderma and Erythrokeratoderma v0.55 KRT17 Zornitza Stark Publications for gene: KRT17 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.54 KRT17 Zornitza Stark Mode of inheritance for gene: KRT17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3817 SERPINB7 Zornitza Stark Marked gene: SERPINB7 as ready
Mendeliome v0.3817 SERPINB7 Zornitza Stark Gene: serpinb7 has been classified as Green List (High Evidence).
Mendeliome v0.3817 SERPINB7 Zornitza Stark Phenotypes for gene: SERPINB7 were changed from to Palmoplantar keratoderma, Nagashima type (MIM#615598)
Mendeliome v0.3816 SERPINB7 Zornitza Stark Publications for gene: SERPINB7 were set to
Mendeliome v0.3815 SERPINB7 Zornitza Stark Mode of inheritance for gene: SERPINB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3814 SERPINB7 Zornitza Stark Tag founder tag was added to gene: SERPINB7.
Mendeliome v0.3814 SERPINB7 Zornitza Stark reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24773080, 24207119, 24514002, 31706940; Phenotypes: Palmoplantar keratoderma, Nagashima type (MIM#615598); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.53 SERPINB7 Zornitza Stark Marked gene: SERPINB7 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.53 SERPINB7 Zornitza Stark Gene: serpinb7 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.53 SERPINB7 Zornitza Stark Phenotypes for gene: SERPINB7 were changed from to Palmoplantar keratoderma, Nagashima type (MIM#615598)
Palmoplantar Keratoderma and Erythrokeratoderma v0.52 SERPINB7 Zornitza Stark Publications for gene: SERPINB7 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.51 SERPINB7 Zornitza Stark Mode of inheritance for gene: SERPINB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3814 SLURP1 Zornitza Stark Marked gene: SLURP1 as ready
Mendeliome v0.3814 SLURP1 Zornitza Stark Gene: slurp1 has been classified as Green List (High Evidence).
Mendeliome v0.3814 SLURP1 Zornitza Stark Phenotypes for gene: SLURP1 were changed from to Meleda disease (MIM#248300)
Mendeliome v0.3813 SLURP1 Zornitza Stark Publications for gene: SLURP1 were set to
Mendeliome v0.3812 SLURP1 Zornitza Stark Mode of inheritance for gene: SLURP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3811 SLURP1 Zornitza Stark changed review comment from: Over 10 families reported with Mal de Meleda, a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities.; to: Over 10 families reported with Mal de Meleda, a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities. Note single report of manifesting carriers.
Mendeliome v0.3811 SLURP1 Zornitza Stark edited their review of gene: SLURP1: Changed publications: 14674887, 32157724, 12483299, 14756676; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.50 SLURP1 Zornitza Stark Publications for gene: SLURP1 were set to 14674887; 32157724; 12483299
Palmoplantar Keratoderma and Erythrokeratoderma v0.49 SLURP1 Zornitza Stark Mode of inheritance for gene: SLURP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14756676; Phenotypes: Meleda disease, MIM#248300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3811 SLURP1 Zornitza Stark reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14674887, 32157724, 12483299; Phenotypes: Meleda disease (MIM#248300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark Marked gene: SLURP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark Gene: slurp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark Phenotypes for gene: SLURP1 were changed from to Meleda disease (MIM#248300)
Palmoplantar Keratoderma and Erythrokeratoderma v0.47 SLURP1 Zornitza Stark Publications for gene: SLURP1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.46 SLURP1 Zornitza Stark Mode of inheritance for gene: SLURP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.115 ACTN4 Zornitza Stark Marked gene: ACTN4 as ready
Proteinuria v0.115 ACTN4 Zornitza Stark Gene: actn4 has been classified as Green List (High Evidence).
Proteinuria v0.115 ACTN4 Zornitza Stark Phenotypes for gene: ACTN4 were changed from to Glomerulosclerosis, focal segmental, 1, MIM#603278
Proteinuria v0.114 ACTN4 Zornitza Stark Publications for gene: ACTN4 were set to
Proteinuria v0.113 ACTN4 Zornitza Stark Mode of inheritance for gene: ACTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.112 ACTN4 Zornitza Stark reviewed gene: ACTN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26740551, 22351778, 10700177, 26301083; Phenotypes: Glomerulosclerosis, focal segmental, 1, MIM#603278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3811 ACTN4 Zornitza Stark Marked gene: ACTN4 as ready
Mendeliome v0.3811 ACTN4 Zornitza Stark Gene: actn4 has been classified as Green List (High Evidence).
Mendeliome v0.3811 ACTN4 Zornitza Stark Phenotypes for gene: ACTN4 were changed from to Glomerulosclerosis, focal segmental, 1, MIM#603278
Ichthyosis v0.87 PIGL Paul De Fazio gene: PIGL was added
gene: PIGL was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 22444671; 31535386
Phenotypes for gene: PIGL were set to CHIME syndrome (MIM#280000)
Review for gene: PIGL was set to GREEN
gene: PIGL was marked as current diagnostic
Added comment: Early onset migratory ichthyosiform dermatosis is characteristic of this syndrome (the 'I' in 'CHIME'). Also called Zunich neuroectodermal syndrome.

In 6 previously reported unrelated individuals with Zunich neuroectodermal syndrome, Ng et al. (PMID 22444671) identified compound heterozygosity for 2 mutations in the PIGL gene. None of the variants have homozygotes in gnomAD.

A homozygous variant has also been reported in affected individuals from one family more recently (e.g. PMID 31535386).
Sources: Literature
Mendeliome v0.3810 ACTN4 Zornitza Stark Publications for gene: ACTN4 were set to
Mendeliome v0.3809 ACTN4 Zornitza Stark Mode of pathogenicity for gene: ACTN4 was changed from to Other
Mendeliome v0.3808 ACTN4 Zornitza Stark Mode of inheritance for gene: ACTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SASH1 Paul De Fazio gene: SASH1 was added
gene: SASH1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SASH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASH1 were set to 25315659
Phenotypes for gene: SASH1 were set to Dyschromatosis universalis hereditaria 1 (MIM#127500)
Review for gene: SASH1 was set to RED
gene: SASH1 was marked as current diagnostic
Added comment: Associated with Dyschromatosis universalis hereditaria 1 (MIM#127500). One family reported with biallelic variants in SASH1 who had palmoplantar keratoderma (among other phenotypes), but this is the only report of palmoplantar keratoderma associated with variants in this gene that I can find.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT6B Ain Roesley reviewed gene: KRT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 4 (MIM#615728); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT17 Ain Roesley changed review comment from: Also known as Jackson-Lawler Syndrome, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.

PMID: 31823354;
- cohort of 815 individuals, 134 patients had variants in KRT17
- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma; to: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.

PMID: 31823354;
- cohort of 815 individuals, 134 patients had variants in KRT17
- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma
Ichthyosis v0.87 KRT2 Ain Roesley reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581228, 22612346; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa v0.44 KRT2 Ain Roesley gene: KRT2 was added
gene: KRT2 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT2 were set to 26581228; 22612346
Phenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Penetrance for gene: KRT2 were set to unknown
Review for gene: KRT2 was set to GREEN
Added comment: Superficial epidermolytic ichthyosis (SEI), previously known as Ichthyosis bullosa of Siemens.
Clinical findings are similar to those of epidermolytic ichthyosis, but the phenotype is generally milder and can be quite variable in severity.
SEI is clinically characterized by mild epidermal hyperkeratosis over flexural areas, blister formation, and the development of superficially denuded areas of hyperkeratotic skin. Symptoms usually improve with age.

PMID: 26581228;
- 7 affecteds in 4 families
> all missense variants

PMID: 22612346;
- 2 families
> missense variants
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT17 Ain Roesley reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 2 (MIM#167210); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Marked gene: WAS as ready
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Classified gene: WAS as Green List (high evidence)
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.193 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900
Review for gene: WAS was set to GREEN
Added comment: Well established gene-disease association. Thrombocytopaenia is a key feature of Wiskott-Aldrich syndrome and isolated thrombocytopaenia also described with WAS variants.
Sources: Expert list
Mendeliome v0.3807 VKORC1 Zornitza Stark Mode of inheritance for gene: VKORC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3806 VKORC1 Zornitza Stark reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14765194, 21900891, 28198005; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473, Warfarin resistance, MIM# 122700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Classified gene: VKORC1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.191 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to 14765194
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473
Review for gene: VKORC1 was set to GREEN
Added comment: Severe presentation with intracranial haemorrhage in first few weeks of life reported with bi-allelic variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Green List (high evidence)
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.189 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Review for gene: VIPAS39 was set to GREEN
Added comment: A defect in platelet alpha-granule biogenesis is a key feature of the syndrome.
Sources: Expert list
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.187 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 26399659; 16896922
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Review for gene: VPS33B was set to GREEN
Added comment: Reports of life-threatening haemorrhage in the context of biopsies in ARC syndrome patients, and experimental data supporting a role of VPS33B in platelet activation.
Sources: Expert list
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Marked gene: TUBB1 as ready
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Classified gene: TUBB1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.185 TUBB1 Zornitza Stark gene: TUBB1 was added
gene: TUBB1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB1 were set to 32757236; 31565851; 29333906; 18849486
Phenotypes for gene: TUBB1 were set to Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112
Review for gene: TUBB1 was set to GREEN
Added comment: Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SERPINB7 Paul De Fazio reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24773080, 24207119, 24514002, 31706940; Phenotypes: Palmoplantar keratoderma, Nagashima type (MIM#615598); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SLURP1 Paul De Fazio edited their review of gene: SLURP1: Changed publications: 14674887, 32157724, 12483299
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SLURP1 Paul De Fazio changed review comment from: Association with Meleda disease is well supported. Via OMIM: "Mal de Meleda is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities."; to: Association with Meleda disease is well supported (>10 families). Via OMIM: "Mal de Meleda is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities."
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SLURP1 Paul De Fazio reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14674887, 32157724; Phenotypes: Meleda disease (MIM#248300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.3806 ACTN4 Elena Savva reviewed gene: ACTN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26740551, 22351778, 10700177, 26301083; Phenotypes: Glomerulosclerosis, focal segmental, 1, 603278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.3806 TPM4 Zornitza Stark Marked gene: TPM4 as ready
Mendeliome v0.3806 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Mendeliome v0.3806 TPM4 Zornitza Stark Classified gene: TPM4 as Green List (high evidence)
Mendeliome v0.3806 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Mendeliome v0.3805 TPM4 Zornitza Stark gene: TPM4 was added
gene: TPM4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM4 were set to 28134622; 31249973; 21153663
Phenotypes for gene: TPM4 were set to Macrothrombocytopaenia
Review for gene: TPM4 was set to GREEN
Added comment: Three families reported in addition to genome-wide association studies in nearly 70,000 individuals which indicate that SNVs in TPM4 exert an effect on the count and volume of platelets.
Sources: Expert list
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Marked gene: TPM4 as ready
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Classified gene: TPM4 as Green List (high evidence)
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.183 TPM4 Zornitza Stark gene: TPM4 was added
gene: TPM4 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM4 were set to 28134622; 31249973; 21153663
Phenotypes for gene: TPM4 were set to Macrothrombocytopenia
Review for gene: TPM4 was set to GREEN
Added comment: Three families reported in addition to genome-wide association studies in nearly 70,000 individuals which indicate that SNVs in TPM4 exert an effect on the count and volume of platelets.
Sources: Expert list
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Marked gene: TNXB as ready
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Classified gene: TNXB as Green List (high evidence)
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.181 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408
Review for gene: TNXB was set to GREEN
Added comment: Can present with significant bruising.
Sources: Expert list
Mendeliome v0.3804 THPO Zornitza Stark Marked gene: THPO as ready
Mendeliome v0.3804 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Mendeliome v0.3804 THPO Zornitza Stark Phenotypes for gene: THPO were changed from to Thrombocythemia 1, MIM# 187950
Mendeliome v0.3803 THPO Zornitza Stark Publications for gene: THPO were set to
Mendeliome v0.3802 THPO Zornitza Stark Mode of inheritance for gene: THPO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3801 THPO Zornitza Stark reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 9425899, 10583217; Phenotypes: Thrombocythemia 1, MIM# 187950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Marked gene: THPO as ready
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Classified gene: THPO as Green List (high evidence)
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.179 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THPO were set to 9425899; 10583217
Phenotypes for gene: THPO were set to Thrombocythemia 1, MIM# 187950
Review for gene: THPO was set to GREEN
Added comment: Both thrombotic and bleeding episodes described with this platelet disorder.
Sources: Expert list
Mendeliome v0.3801 THBD Zornitza Stark Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926 to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Bleeding disorder
Mendeliome v0.3800 THBD Zornitza Stark Publications for gene: THBD were set to 29500241; 19625716
Mendeliome v0.3799 THBD Zornitza Stark edited their review of gene: THBD: Added comment: Variants in this gene have also been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain.; Changed publications: 29500241, 19625716, 25564403, 32634856; Changed phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926, Bleeding disorder
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Marked gene: THBD as ready
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Classified gene: THBD as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.177 THBD Zornitza Stark gene: THBD was added
gene: THBD was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THBD were set to 25564403; 32634856
Phenotypes for gene: THBD were set to Bleeding disorder
Review for gene: THBD was set to AMBER
Added comment: Variants in this gene have been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain.
Sources: Expert list
Bleeding and Platelet Disorders v0.176 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Bleeding and Platelet Disorders v0.176 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.176 TGFBR2 Zornitza Stark Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168
Bleeding and Platelet Disorders v0.175 TGFBR2 Zornitza Stark Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.174 TGFBR2 Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.174 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Bleeding and Platelet Disorders v0.174 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.174 TGFBR1 Zornitza Stark Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192
Bleeding and Platelet Disorders v0.173 TGFBR1 Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.172 TGFBR1 Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.172 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Bleeding and Platelet Disorders v0.172 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.172 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MIM# 615582
Bleeding and Platelet Disorders v0.171 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.170 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.170 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
Bleeding and Platelet Disorders v0.170 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.170 TGFB2 Zornitza Stark Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816
Bleeding and Platelet Disorders v0.169 TGFB2 Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.168 TGFB2 Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3799 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Mendeliome v0.3799 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Mendeliome v0.3799 TBXAS1 Zornitza Stark Phenotypes for gene: TBXAS1 were changed from to Ghosal hematodiaphyseal syndrome, MIM# 231095
Mendeliome v0.3798 TBXAS1 Zornitza Stark Mode of inheritance for gene: TBXAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3797 TBXAS1 Zornitza Stark reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18264100; Phenotypes: Ghosal hematodiaphyseal syndrome, MIM# 231095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Classified gene: TBXAS1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.167 TBXAS1 Zornitza Stark gene: TBXAS1 was added
gene: TBXAS1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBXAS1 were set to 18264100
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095
Review for gene: TBXAS1 was set to GREEN
Added comment: Thrombocytopaenia is a feature of this condition.
Sources: Expert list
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Classified gene: STIM1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.165 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STIM1 were set to Stormorken syndrome, MIM# 185070
Review for gene: STIM1 was set to GREEN
Added comment: Well established gene-disease association, mild bleeding tendency due to platelet dysfunction and thrombocytopaenia.
Sources: Expert list
Mendeliome v0.3797 SRC Zornitza Stark Marked gene: SRC as ready
Mendeliome v0.3797 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Mendeliome v0.3797 SRC Zornitza Stark Classified gene: SRC as Green List (high evidence)
Mendeliome v0.3797 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Mendeliome v0.3796 SRC Zornitza Stark gene: SRC was added
gene: SRC was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRC were set to 31204551; 26936507
Phenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM# 616937
Review for gene: SRC was set to GREEN
Added comment: Two families, and convincing functional data including animal model.
Sources: Expert list
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Marked gene: SRC as ready
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Classified gene: SRC as Green List (high evidence)
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.163 SRC Zornitza Stark gene: SRC was added
gene: SRC was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRC were set to 31204551; 26936507
Phenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM# 616937
Review for gene: SRC was set to GREEN
Added comment: Two families, and convincing functional data including animal model.
Sources: Expert list
Bleeding and Platelet Disorders v0.162 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Bleeding and Platelet Disorders v0.162 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.162 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Thoracic aortic aneurysm
Bleeding and Platelet Disorders v0.161 SMAD4 Zornitza Stark Publications for gene: SMAD4 were set to
Bleeding and Platelet Disorders v0.160 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.159 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30809044; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050, Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.159 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Bleeding and Platelet Disorders v0.159 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.159 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Bleeding and Platelet Disorders v0.158 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.157 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3795 SLFN14 Zornitza Stark Marked gene: SLFN14 as ready
Mendeliome v0.3795 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Mendeliome v0.3795 SLFN14 Zornitza Stark Classified gene: SLFN14 as Green List (high evidence)
Mendeliome v0.3795 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Mendeliome v0.3794 SLFN14 Zornitza Stark gene: SLFN14 was added
gene: SLFN14 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLFN14 were set to 26280575; 26769223
Phenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913
Review for gene: SLFN14 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Marked gene: SLFN14 as ready
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Classified gene: SLFN14 as Green List (high evidence)
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.156 SLFN14 Zornitza Stark gene: SLFN14 was added
gene: SLFN14 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLFN14 were set to 26280575; 26769223
Phenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913
Review for gene: SLFN14 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.155 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Bleeding and Platelet Disorders v0.155 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.155 SLC2A10 Zornitza Stark Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome, MIM# 208050
Bleeding and Platelet Disorders v0.154 SLC2A10 Zornitza Stark Mode of inheritance for gene: SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.153 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.153 SKI Zornitza Stark Marked gene: SKI as ready
Bleeding and Platelet Disorders v0.153 SKI Zornitza Stark Gene: ski has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.153 SKI Zornitza Stark Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM# 182212
Bleeding and Platelet Disorders v0.152 SKI Zornitza Stark Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.151 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Classified gene: RUNX1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.150 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RUNX1 were set to 10508512
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Review for gene: RUNX1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Classified gene: RBM8A as Green List (high evidence)
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.148 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
Review for gene: RBM8A was set to GREEN
Added comment: Note common deletion on chromosome 1q21.1 is usually involved.
Sources: Expert list
Bleeding and Platelet Disorders v0.147 PTPRJ Zornitza Stark edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopaenia
Mendeliome v0.3793 PTPRJ Zornitza Stark Marked gene: PTPRJ as ready
Mendeliome v0.3793 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3793 PTPRJ Zornitza Stark Classified gene: PTPRJ as Amber List (moderate evidence)
Mendeliome v0.3793 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3792 PTPRJ Zornitza Stark gene: PTPRJ was added
gene: PTPRJ was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRJ were set to 30591527
Phenotypes for gene: PTPRJ were set to Thrombocytopaenia
Review for gene: PTPRJ was set to AMBER
Added comment: Two siblings reported with nonsyndromic thrombocytopenia characterised by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. Supportive zebrafish model.
Sources: Expert list
Bleeding and Platelet Disorders v0.147 PTPRJ Zornitza Stark Phenotypes for gene: PTPRJ were changed from Thrombocytopania to Thrombocytopaenia
Bleeding and Platelet Disorders v0.146 PTPRJ Zornitza Stark Classified gene: PTPRJ as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.146 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.145 PTPRJ Zornitza Stark gene: PTPRJ was added
gene: PTPRJ was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRJ were set to 30591527
Phenotypes for gene: PTPRJ were set to Thrombocytopania
Review for gene: PTPRJ was set to AMBER
Added comment: Two siblings reported with nonsyndromic thrombocytopenia characterised by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. Supportive zebrafish model.
Sources: Expert list
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Classified gene: PTPN11 as Green List (high evidence)
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.143 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, MIM# 163950
Mode of pathogenicity for gene: PTPN11 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: PTPN11 was set to GREEN
Added comment: Thrombocytopaenia and bleeding tendency are common features of PTPN11-associated Noonan syndrome.
Sources: Expert list
Mendeliome v0.3791 PTGS1 Zornitza Stark Marked gene: PTGS1 as ready
Mendeliome v0.3791 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3791 PTGS1 Zornitza Stark Classified gene: PTGS1 as Amber List (moderate evidence)
Mendeliome v0.3791 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3790 PTGS1 Zornitza Stark gene: PTGS1 was added
gene: PTGS1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PTGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384; 8562397
Phenotypes for gene: PTGS1 were set to Platelet dysfunction; bleeding
Review for gene: PTGS1 was set to AMBER
Added comment: Single molecularly characterised family reported. However, note at least two previous older reports where deficiency was identified at protein rather than gene level.
Sources: Expert list
Bleeding and Platelet Disorders v0.142 PTGS1 Zornitza Stark Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384 8562397
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Marked gene: PTGS1 as ready
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Classified gene: PTGS1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.140 PTGS1 Zornitza Stark edited their review of gene: PTGS1: Changed publications: 32299908, 11442478, 27629384, 8562397
Bleeding and Platelet Disorders v0.140 PTGS1 Zornitza Stark gene: PTGS1 was added
gene: PTGS1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PTGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384 8562397
Phenotypes for gene: PTGS1 were set to Platelet dysfunction; bleeding
Review for gene: PTGS1 was set to AMBER
Added comment: Single molecularly characterised family reported. However, note at least two previous older reports where deficiency was identified at protein rather than gene level.
Sources: Expert list
Bleeding and Platelet Disorders v0.139 PRKG1 Zornitza Stark Marked gene: PRKG1 as ready
Bleeding and Platelet Disorders v0.139 PRKG1 Zornitza Stark Gene: prkg1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.139 PRKG1 Zornitza Stark Phenotypes for gene: PRKG1 were changed from to Aortic aneurysm, familial thoracic 8, MIM# 615436
Bleeding and Platelet Disorders v0.138 PRKG1 Zornitza Stark Mode of inheritance for gene: PRKG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.137 PRKG1 Zornitza Stark reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM# 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3789 PRKACG Zornitza Stark Marked gene: PRKACG as ready
Mendeliome v0.3789 PRKACG Zornitza Stark Gene: prkacg has been classified as Red List (Low Evidence).
Mendeliome v0.3789 PRKACG Zornitza Stark gene: PRKACG was added
gene: PRKACG was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PRKACG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKACG were set to 25061177; 30819905
Phenotypes for gene: PRKACG were set to Bleeding disorder, platelet-type, 19, MIM# 616176
Review for gene: PRKACG was set to RED
Added comment: Single family reported only. A heterozygous VOUS reported in another individual in PMID 30819905 together with several other VOUS in same individual.
Sources: Expert list
Bleeding and Platelet Disorders v0.137 PRKACG Zornitza Stark Marked gene: PRKACG as ready
Bleeding and Platelet Disorders v0.137 PRKACG Zornitza Stark Gene: prkacg has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.137 PRKACG Zornitza Stark gene: PRKACG was added
gene: PRKACG was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PRKACG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKACG were set to 25061177; 30819905
Phenotypes for gene: PRKACG were set to Bleeding disorder, platelet-type, 19, MIM# 616176
Review for gene: PRKACG was set to RED
Added comment: Single family reported only. A heterozygous VOUS reported in another individual in PMID 30819905 together with several other VOUS in same individual.
Sources: Expert list
Mendeliome v0.3788 PLAU Zornitza Stark Marked gene: PLAU as ready
Mendeliome v0.3788 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Mendeliome v0.3788 PLAU Zornitza Stark Classified gene: PLAU as Green List (high evidence)
Mendeliome v0.3788 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Mendeliome v0.3787 PLAU Zornitza Stark Tag SV/CNV tag was added to gene: PLAU.
Mendeliome v0.3787 PLAU Zornitza Stark gene: PLAU was added
gene: PLAU was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAU were set to 20007542
Phenotypes for gene: PLAU were set to Quebec platelet disorder, MIM# 601709
Review for gene: PLAU was set to GREEN
Added comment: Note this is a tandem 78kb duplication of the gene, multiple families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Marked gene: PLAU as ready
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Classified gene: PLAU as Green List (high evidence)
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.135 PLAU Zornitza Stark gene: PLAU was added
gene: PLAU was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAU were set to 20007542
Phenotypes for gene: PLAU were set to Quebec platelet disorder, MIM# 601709
Review for gene: PLAU was set to GREEN
Added comment: Note this is a tandem 78kb duplication of the gene.
Sources: Expert list
Mendeliome v0.3786 PLA2G4A Zornitza Stark Marked gene: PLA2G4A as ready
Mendeliome v0.3786 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Mendeliome v0.3786 PLA2G4A Zornitza Stark Classified gene: PLA2G4A as Green List (high evidence)
Mendeliome v0.3786 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Mendeliome v0.3785 PLA2G4A Zornitza Stark gene: PLA2G4A was added
gene: PLA2G4A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLA2G4A were set to 18451993; 25102815; 23268370
Phenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372
Review for gene: PLA2G4A was set to GREEN
Added comment: At least three unrelated individuals reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Marked gene: PLA2G4A as ready
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Classified gene: PLA2G4A as Green List (high evidence)
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.133 PLA2G4A Zornitza Stark gene: PLA2G4A was added
gene: PLA2G4A was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLA2G4A were set to 18451993; 25102815; 23268370
Phenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372
Review for gene: PLA2G4A was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.132 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Bleeding and Platelet Disorders v0.132 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.132 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from to Aortic aneurysm
Bleeding and Platelet Disorders v0.131 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Bleeding and Platelet Disorders v0.130 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.129 NOTCH1 Zornitza Stark reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16729972, 26820064, 16025100, 25963545; Phenotypes: Aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.129 NBEAL2 Zornitza Stark Publications for gene: NBEAL2 were set to
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark edited their review of gene: NBEAL2: Changed publications: 21765412, 21765411, 21765413; Changed phenotypes: Gray platelet syndrome, MIM# 139090
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Marked gene: NBEAL2 as ready
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Classified gene: NBEAL2 as Green List (high evidence)
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.127 NBEAL2 Zornitza Stark gene: NBEAL2 was added
gene: NBEAL2 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090
Review for gene: NBEAL2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.126 MYLK Zornitza Stark Marked gene: MYLK as ready
Bleeding and Platelet Disorders v0.126 MYLK Zornitza Stark Gene: mylk has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.126 MYLK Zornitza Stark Phenotypes for gene: MYLK were changed from to Aortic aneurysm, familial thoracic 7, MIM# 613780
Bleeding and Platelet Disorders v0.125 MYLK Zornitza Stark Mode of inheritance for gene: MYLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.124 MYLK Zornitza Stark reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM# 613780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Classified gene: MYH9 as Green List (high evidence)
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.123 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Review for gene: MYH9 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.122 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Bleeding and Platelet Disorders v0.122 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.122 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from to Aortic aneurysm, familial thoracic 4, MIM# 132900
Bleeding and Platelet Disorders v0.121 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.120 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Marked gene: MPL as ready
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Classified gene: MPL as Green List (high evidence)
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.119 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPL were set to 11133753
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Review for gene: MPL was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Mendeliome v0.3784 MPIG6B Zornitza Stark Marked gene: MPIG6B as ready
Mendeliome v0.3784 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Mendeliome v0.3784 MPIG6B Zornitza Stark Classified gene: MPIG6B as Green List (high evidence)
Mendeliome v0.3784 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Mendeliome v0.3783 MPIG6B Zornitza Stark gene: MPIG6B was added
gene: MPIG6B was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPIG6B were set to 31276734; 29898956; 27743390
Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
Review for gene: MPIG6B was set to GREEN
Added comment: Six families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Marked gene: MPIG6B as ready
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Classified gene: MPIG6B as Green List (high evidence)
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.117 MPIG6B Zornitza Stark gene: MPIG6B was added
gene: MPIG6B was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPIG6B were set to 31276734; 29898956; 27743390
Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
Review for gene: MPIG6B was set to GREEN
Added comment: Six families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.116 MFAP5 Zornitza Stark Marked gene: MFAP5 as ready
Bleeding and Platelet Disorders v0.116 MFAP5 Zornitza Stark Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.116 MFAP5 Zornitza Stark Phenotypes for gene: MFAP5 were changed from to Aortic aneurysm, familial thoracic MIM# 616166
Bleeding and Platelet Disorders v0.115 MFAP5 Zornitza Stark Publications for gene: MFAP5 were set to
Bleeding and Platelet Disorders v0.114 MFAP5 Zornitza Stark Mode of inheritance for gene: MFAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.113 MFAP5 Zornitza Stark Classified gene: MFAP5 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.113 MFAP5 Zornitza Stark Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.112 MFAP5 Zornitza Stark reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434006, 30763214; Phenotypes: Aortic aneurysm, familial thoracic MIM# 616166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.112 MED12 Zornitza Stark Marked gene: MED12 as ready
Bleeding and Platelet Disorders v0.112 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.112 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to Lujan-Fryns syndrome, MIM# 309520
Bleeding and Platelet Disorders v0.111 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.110 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lujan-Fryns syndrome, MIM# 309520; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Marked gene: MECOM as ready
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Classified gene: MECOM as Green List (high evidence)
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.109 MECOM Zornitza Stark gene: MECOM was added
gene: MECOM was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738
Review for gene: MECOM was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.108 MAT2A Zornitza Stark Marked gene: MAT2A as ready
Bleeding and Platelet Disorders v0.108 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.108 MAT2A Zornitza Stark Phenotypes for gene: MAT2A were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm
Mendeliome v0.3782 MAT2A Zornitza Stark Marked gene: MAT2A as ready
Mendeliome v0.3782 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3782 MAT2A Zornitza Stark Phenotypes for gene: MAT2A were changed from to Thoracic aortic aneurysm
Mendeliome v0.3781 MAT2A Zornitza Stark Publications for gene: MAT2A were set to
Bleeding and Platelet Disorders v0.107 MAT2A Zornitza Stark Phenotypes for gene: MAT2A were changed from to Thoracic aortic aneurysm
Mendeliome v0.3780 MAT2A Zornitza Stark Mode of inheritance for gene: MAT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3779 MAT2A Zornitza Stark Classified gene: MAT2A as Amber List (moderate evidence)
Mendeliome v0.3779 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3778 MAT2A Zornitza Stark reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989, 25557781; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.106 MAT2A Zornitza Stark Publications for gene: MAT2A were set to
Bleeding and Platelet Disorders v0.105 MAT2A Zornitza Stark Mode of inheritance for gene: MAT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.104 MAT2A Zornitza Stark Classified gene: MAT2A as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.104 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.103 MAT2A Zornitza Stark reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989, 25557781; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Marked gene: LYST as ready
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Classified gene: LYST as Green List (high evidence)
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.102 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM# 214500
Review for gene: LYST was set to GREEN
Added comment: Well established gene-disease association, thrombocytopaenia is a feature.
Sources: Expert list
Mendeliome v0.3778 LOX Zornitza Stark Marked gene: LOX as ready
Mendeliome v0.3778 LOX Zornitza Stark Gene: lox has been classified as Green List (High Evidence).
Mendeliome v0.3778 LOX Zornitza Stark Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM# 617168
Mendeliome v0.3777 LOX Zornitza Stark Publications for gene: LOX were set to
Mendeliome v0.3776 LOX Zornitza Stark Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.101 LOX Zornitza Stark Marked gene: LOX as ready
Bleeding and Platelet Disorders v0.101 LOX Zornitza Stark Gene: lox has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.101 LOX Zornitza Stark Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM# 617168
Mendeliome v0.3775 LOX Zornitza Stark reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 26838787, 30675029; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM# 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.100 LOX Zornitza Stark Publications for gene: LOX were set to
Bleeding and Platelet Disorders v0.99 LOX Zornitza Stark Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.98 LOX Zornitza Stark edited their review of gene: LOX: Added comment: Gene-disease association with aortic aneurysm rated as strong by ClinGen.; Changed publications: 30071989, 26838787, 30675029
Bleeding and Platelet Disorders v0.98 LOX Zornitza Stark reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM# 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3775 KDSR Zornitza Stark Marked gene: KDSR as ready
Mendeliome v0.3775 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Mendeliome v0.3775 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Mendeliome v0.3774 KDSR Zornitza Stark Publications for gene: KDSR were set to
Mendeliome v0.3773 KDSR Zornitza Stark Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3772 KDSR Zornitza Stark reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774589, 30467204, 28575652; Phenotypes: Erythrokeratodermia variabilis et progressiva 4, MIM# 617526, severe thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KDSR Zornitza Stark Marked gene: KDSR as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Palmoplantar Keratoderma and Erythrokeratoderma v0.44 KDSR Zornitza Stark Publications for gene: KDSR were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.43 KDSR Zornitza Stark Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 KDSR Zornitza Stark reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774589, 30467204, 28575652; Phenotypes: Erythrokeratodermia variabilis et progressiva 4, MIM# 617526, severe thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Marked gene: KDSR as ready
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Classified gene: KDSR as Green List (high evidence)
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.97 KDSR Zornitza Stark gene: KDSR was added
gene: KDSR was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28774589; 30467204
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Review for gene: KDSR was set to GREEN
Added comment: At least 5 families reported where thrombocytopaenia was a significant feature in addition to the eryhtrokeratoderma.
Sources: Expert list
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Marked gene: HOXA11 as ready
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Classified gene: HOXA11 as Green List (high evidence)
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.95 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXA11 were set to 11101832; 16765069
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM# 605432
Review for gene: HOXA11 was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Marked gene: GNE as ready
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Classified gene: GNE as Green List (high evidence)
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.93 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 30171045; 32505938; 29941673; 25257349
Phenotypes for gene: GNE were set to Thrombocytopaenia; Myopathy
Review for gene: GNE was set to GREEN
Added comment: Multiple reports of thrombocytopaenia associated with bi-allelic variants in this gene, without or without a muscle phenotype. Note bi-allelic variants classically cause Nonaka myopathy.
Sources: Expert list
Mendeliome v0.3772 GGCX Zornitza Stark Marked gene: GGCX as ready
Mendeliome v0.3772 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Mendeliome v0.3772 GGCX Zornitza Stark Phenotypes for gene: GGCX were changed from to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450
Mendeliome v0.3771 GGCX Zornitza Stark Publications for gene: GGCX were set to
Mendeliome v0.3770 GGCX Zornitza Stark Mode of inheritance for gene: GGCX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3769 GGCX Zornitza Stark reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: 32785662, 30531603, 26758921; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Marked gene: GGCX as ready
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Classified gene: GGCX as Green List (high evidence)
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.91 GGCX Zornitza Stark gene: GGCX was added
gene: GGCX was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGCX were set to 32785662; 30531603; 26758921
Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450
Review for gene: GGCX was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Marked gene: GBA as ready
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Classified gene: GBA as Green List (high evidence)
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.89 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Bleeding Disorders. 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
Review for gene: GBA was set to GREEN
Added comment: Thrombocytopaenia secondary to hypersplenism.
Sources: Expert list
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Classified gene: GATA1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.87 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367
Review for gene: GATA1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Hydrops fetalis v0.163 GDF2 Zornitza Stark changed review comment from: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT.
Sources: Literature; to: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT/PAH.
Sources: Literature
Hereditary Haemorrhagic Telangiectasia v0.10 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Hereditary Haemorrhagic Telangiectasia v0.10 GDF2 Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence).
Hereditary Haemorrhagic Telangiectasia v0.10 GDF2 Zornitza Stark Publications for gene: GDF2 were set to
Hydrops fetalis v0.163 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Hydrops fetalis v0.163 GDF2 Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.163 GDF2 Zornitza Stark gene: GDF2 was added
gene: GDF2 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF2 were set to 32618121
Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops
Review for gene: GDF2 was set to RED
Added comment: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2836 KAT8 Zornitza Stark Phenotypes for gene: KAT8 were changed from Intellectual disability; seizures; autism; dysmorphic features to Intellectual disability; seizures; autism; dysmorphic features; Li-Ghorbani-Weisz syndrome, MIM#618974
Mendeliome v0.3769 KAT8 Zornitza Stark Phenotypes for gene: KAT8 were changed from Intellectual disability; seizures; autism; dysmorphic features to Intellectual disability; seizures; autism; dysmorphic features; Li-Ghorbani-Weisz syndrome, MIM#618974
Mendeliome v0.3768 KAT8 Zornitza Stark edited their review of gene: KAT8: Changed phenotypes: Intellectual disability, seizures, autism, dysmorphic features, Li-Ghorbani-Weisz syndrome, MIM#618974
Genetic Epilepsy v0.776 KAT8 Zornitza Stark Phenotypes for gene: KAT8 were changed from Intellectual disability; seizures; autism; dysmorphic features to Intellectual disability; seizures; autism; dysmorphic features; Li-Ghorbani-Weisz syndrome, MIM#618974
Genetic Epilepsy v0.775 KAT8 Zornitza Stark edited their review of gene: KAT8: Changed phenotypes: Intellectual disability, seizures, autism, dysmorphic features, Li-Ghorbani-Weisz syndrome, MIM#618974
Genetic Epilepsy v0.775 KAT8 Zornitza Stark edited their review of gene: KAT8: Changed phenotypes: Intellectual disability, seizures, autism, dysmorphic features, Li-Ghorbani_Weisz syndrome, MIM#618974
Pharmacogenomics_Paediatric v0.49 CYP2C19 Zornitza Stark Publications for gene: CYP2C19 were set to 27981572
Pharmacogenomics_Paediatric v0.48 CYP2D6 Zornitza Stark Publications for gene: CYP2D6 were set to 18406467
Pharmacogenomics_Paediatric v0.47 CYP3A5 Zornitza Stark Publications for gene: CYP3A5 were set to 25801146
Pharmacogenomics_Paediatric v0.46 TPMT Zornitza Stark Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine; Thioguanines
Pharmacogenomics_Paediatric v0.45 HLA-B Zornitza Stark Publications for gene: HLA-B were set to 25099164; 23695185; 29392710
Pharmacogenomics_Paediatric v0.44 POLG Zornitza Stark Marked gene: POLG as ready
Pharmacogenomics_Paediatric v0.44 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.44 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Alpers syndrome
Pharmacogenomics_Paediatric v0.43 POLG Zornitza Stark Mode of pathogenicity for gene: POLG was changed from Other to None
Pharmacogenomics_Paediatric v0.42 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.41 POLG Zornitza Stark Classified gene: POLG as Amber List (moderate evidence)
Pharmacogenomics_Paediatric v0.41 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.40 POLG Zornitza Stark reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpers syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.40 DPYD Zornitza Stark Marked gene: DPYD as ready
Pharmacogenomics_Paediatric v0.40 DPYD Zornitza Stark Gene: dpyd has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.40 DPYD Zornitza Stark Phenotypes for gene: DPYD were changed from to Fluoropyrimidine
Pharmacogenomics_Paediatric v0.39 DPYD Zornitza Stark Classified gene: DPYD as Amber List (moderate evidence)
Pharmacogenomics_Paediatric v0.39 DPYD Zornitza Stark Gene: dpyd has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.38 DPYD Zornitza Stark edited their review of gene: DPYD: Changed rating: AMBER
Pharmacogenomics_Paediatric v0.38 DPYD Zornitza Stark reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 29152729; Phenotypes: Fluoropyrimidine; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.38 CYP2D6 Zornitza Stark Marked gene: CYP2D6 as ready
Pharmacogenomics_Paediatric v0.38 CYP2D6 Zornitza Stark Gene: cyp2d6 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.38 CYP2D6 Zornitza Stark Phenotypes for gene: CYP2D6 were changed from to Codeine, tramadol, oxycodone
Pharmacogenomics_Paediatric v0.37 CYP2D6 Zornitza Stark Classified gene: CYP2D6 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.37 CYP2D6 Zornitza Stark Gene: cyp2d6 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.36 CYP2D6 Zornitza Stark reviewed gene: CYP2D6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18406467, 24458010; Phenotypes: Codeine, tramadol, oxycodone; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.36 CYP2C19 Zornitza Stark Marked gene: CYP2C19 as ready
Pharmacogenomics_Paediatric v0.36 CYP2C19 Zornitza Stark Gene: cyp2c19 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.36 CYP2C19 Zornitza Stark Phenotypes for gene: CYP2C19 were changed from to Voriconazole
Pharmacogenomics_Paediatric v0.35 CYP2C19 Zornitza Stark Classified gene: CYP2C19 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.35 CYP2C19 Zornitza Stark Gene: cyp2c19 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.34 CYP2C19 Zornitza Stark reviewed gene: CYP2C19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27981572, 26616742, 31549386; Phenotypes: Voriconazole; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.34 Zornitza Stark removed gene:CFTR from the panel
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 TPMT David Metz commented on gene: TPMT
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: (27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong recommendation (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other; to: (27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."
Pharmacogenomics_Paediatric v0.33 POLG David Metz gene: POLG was added
gene: POLG was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: POLG was set to Other
Publications for gene: POLG were set to 20138553
Mode of pathogenicity for gene: POLG was set to Other
Added comment: "POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders"
Sources: Other
Pharmacogenomics_Paediatric v0.33 DPYD David Metz gene: DPYD was added
gene: DPYD was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: DPYD was set to Other
Publications for gene: DPYD were set to 29152729
Mode of pathogenicity for gene: DPYD was set to Other
Added comment: Fluoropyrimidine Dosing
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz changed review comment from: (24458010)
Strong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467) ; to: PMID: 18406467
Genotype-phenotype concordance from 2 weeks of age

PMID: 24458010
Strong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive: Greater risk of carbamazepine-induced SJS/TEN. Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz Deleted their comment
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN
(26094938)


HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive: Greater risk of carbamazepine-induced SJS/TEN. Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 HLA-A David Metz changed review comment from: Carbamazepine/Oxcarbazapine.
HLA-B*15:02 or HLA-A*31:01 a/w increase risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A*31:01 a/w with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).; to: PMID 29392710
HLA-A*31:01 positive: Greater risk of carbamazepine-induced SJS/TEN, DRESS, and MPE (maculopapular exanthema)
Pharmacogenomics_Paediatric v0.33 HLA-A David Metz changed review comment from: Carbamazepine/Oxcarbazapine.
At least one copy of either HLA-B*15:02 or HLA-A*31:01 associated with increased risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A*31:01 also associated with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).; to: Carbamazepine/Oxcarbazapine.
HLA-B*15:02 or HLA-A*31:01 a/w increase risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A*31:01 a/w with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Marked gene: ADAMTS3 as ready
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Classified gene: ADAMTS3 as Amber List (moderate evidence)
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.161 ADAMTS3 Zornitza Stark gene: ADAMTS3 was added
gene: ADAMTS3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS3 were set to 30450763; 28985353
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154
Review for gene: ADAMTS3 was set to AMBER
Added comment: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth.
Sources: Expert list
Pharmacogenomics_Paediatric v0.33 HLA-A David Metz commented on gene: HLA-A
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz changed review comment from: (24458010)
Strong evidence. Risk of toxicity from codeine (lesser extent tramadol, oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine (tramadol, oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467) ; to: (24458010)
Strong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Voriconazole: Increased success cf. historical controls (PMID 31549386); to: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Increased success cf. historical controls (PMID 31549386); to: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Voriconazole: Increased success cf. historical controls (PMID 31549386)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: Improved time to target concentration with genotype directed dosing (PMID 26616742); to: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Increased success cf. historical controls (PMID 31549386)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz edited their review of gene: CYP2C19: Added comment: Improved time to target concentration with genotype directed dosing (PMID 26616742); Changed publications: 27981572, 26616742
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz edited their review of gene: HLA-B: Added comment: Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN
(26094938)


HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; Changed publications: 26094938
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz commented on gene: HLA-B
Pharmacogenomics_Paediatric v0.33 CFTR David Metz Deleted their review
Pharmacogenomics_Paediatric v0.33 CFTR David Metz gene: CFTR was added
gene: CFTR was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: CFTR was set to Other
Mode of pathogenicity for gene: CFTR was set to Other
Added comment: CF genotype responsive to Ivacaftor
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz changed review comment from: Genotype-phenotype concordance from 2 weeks of age (18406467)
Sources: Other; to: (24458010)
Strong evidence. Risk of toxicity from codeine (lesser extent tramadol, oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine (tramadol, oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467)
Pharmacogenomics_Paediatric v0.33 CYP2C9 David Metz changed review comment from: (32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of
therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.; to: (32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.
Pharmacogenomics_Paediatric v0.33 CYP2C9 David Metz commented on gene: CYP2C9: (32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of
therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: (27981572)
Voriconazole, moderate level evidence.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong evidence (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other; to: (27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong recommendation (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz gene: CYP2C19 was added
gene: CYP2C19 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: CYP2C19 was set to Other
Publications for gene: CYP2C19 were set to 27981572
Added comment: (27981572)
Voriconazole, moderate level evidence.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong evidence (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP3A5 David Metz commented on gene: CYP3A5: Reduced bioavailability/clearance of tacrolimus.
Association with negative outcomes in kidney transplantation.
Pharmacogenomics_Paediatric v0.33 CYP2C9 David Metz reviewed gene: CYP2C9: Rating: ; Mode of pathogenicity: None; Publications: 18406467; Phenotypes: ; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz gene: CYP2D6 was added
gene: CYP2D6 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: CYP2D6 was set to Other
Publications for gene: CYP2D6 were set to 18406467
Added comment: Genotype-phenotype concordance from 2 weeks of age (18406467)
Sources: Other
Hydrops fetalis v0.160 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Hydrops fetalis v0.160 GATA2 Zornitza Stark Gene: gata2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.160 GATA2 Zornitza Stark Classified gene: GATA2 as Amber List (moderate evidence)
Hydrops fetalis v0.160 GATA2 Zornitza Stark Gene: gata2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.159 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 21892158
Phenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038
Review for gene: GATA2 was set to AMBER
Added comment: Typically presents with lower limb oedema but at least one presentation with hydrops reported.
Sources: Expert list
Hydrops fetalis v0.158 UROS Zornitza Stark Marked gene: UROS as ready
Hydrops fetalis v0.158 UROS Zornitza Stark Gene: uros has been classified as Red List (Low Evidence).
Hydrops fetalis v0.158 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROS were set to 24027798
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, MIM# 263700
Review for gene: UROS was set to RED
Added comment: Hydrops is a listed feature in reviews of this condition, but cannot find specific case reports.
Sources: Expert list
Pharmacogenomics_Paediatric v0.33 CYP3A5 David Metz reviewed gene: CYP3A5: Rating: ; Mode of pathogenicity: None; Publications: 25201288; Phenotypes: ; Mode of inheritance: None
Hydrops fetalis v0.157 SOX18 Zornitza Stark Marked gene: SOX18 as ready
Hydrops fetalis v0.157 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Hydrops fetalis v0.157 SOX18 Zornitza Stark Classified gene: SOX18 as Green List (high evidence)
Hydrops fetalis v0.157 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Hydrops fetalis v0.156 SOX18 Zornitza Stark gene: SOX18 was added
gene: SOX18 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SOX18 were set to 12740761; 26631803
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Review for gene: SOX18 was set to GREEN
Added comment: Prenatal onset with hydrops reported in at least two cases.
Sources: Expert list
Hydrops fetalis v0.155 NPC2 Zornitza Stark changed review comment from: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease.
Sources: Expert list; to: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. One identified for NPC2-associated disease.
Sources: Expert list
Hydrops fetalis v0.155 NPC2 Zornitza Stark edited their review of gene: NPC2: Changed publications: 29928259; Changed phenotypes: Niemann-pick disease, type C2, MIM# 607625
Hydrops fetalis v0.155 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Hydrops fetalis v0.155 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.155 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 16010481
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM# 212140
Review for gene: SLC22A5 was set to RED
Added comment: Single case report identified.
Sources: Expert list
Hydrops fetalis v0.154 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Hydrops fetalis v0.154 RPS26 Zornitza Stark Gene: rps26 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.154 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10, MIM# 613309
Review for gene: RPS26 was set to RED
Added comment: Hydrops is a feature of DBA, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.153 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Hydrops fetalis v0.153 RPS24 Zornitza Stark Gene: rps24 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.153 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, MIM# 610629
Review for gene: RPS24 was set to RED
Added comment: Hydrops is a feature of DBS, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.152 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Hydrops fetalis v0.152 RPS10 Zornitza Stark Gene: rps10 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.152 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9, MIM# 613308
Review for gene: RPS10 was set to RED
Added comment: Hydrops has been described in DBS, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.151 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Hydrops fetalis v0.151 RPL5 Zornitza Stark Gene: rpl5 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.151 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL5 were set to 20301769
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6, MIM# 612561
Review for gene: RPL5 was set to RED
Added comment: Hydrops has been reported in DBA, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.150 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Hydrops fetalis v0.150 RPL35A Zornitza Stark Gene: rpl35a has been classified as Red List (Low Evidence).
Hydrops fetalis v0.150 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35A were set to 20301769
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, MIM# 612528
Review for gene: RPL35A was set to RED
Added comment: Hydrops is a feature of DBS, but no specific case reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.149 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Hydrops fetalis v0.149 RPS19 Zornitza Stark Gene: rps19 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.149 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS19 were set to 23349008
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM# 105650
Review for gene: RPS19 was set to RED
Added comment: Single case report.
Sources: Expert list
Hydrops fetalis v0.148 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Hydrops fetalis v0.148 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.148 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 26096958
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1, MIM# 608354
Review for gene: RASA1 was set to RED
Added comment: Single case report.
Sources: Expert list
Hydrops fetalis v0.147 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Hydrops fetalis v0.147 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.147 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R2 were set to 23754335
Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Review for gene: PIK3R2 was set to RED
Added comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Hydrops fetalis v0.146 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Hydrops fetalis v0.146 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence).
Hydrops fetalis v0.146 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3CA were set to 23754335
Phenotypes for gene: PIK3CA were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Review for gene: PIK3CA was set to RED
Added comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Hydrops fetalis v0.145 ALG1 Zornitza Stark edited their review of gene: ALG1: Changed rating: AMBER
Hydrops fetalis v0.145 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Hydrops fetalis v0.145 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Hydrops fetalis v0.145 SEC23B Zornitza Stark Classified gene: SEC23B as Green List (high evidence)
Hydrops fetalis v0.145 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Hydrops fetalis v0.144 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 29300242; 20381388
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II , MIM#224100
Review for gene: SEC23B was set to GREEN
Added comment: Three cases reported of severe presentation including hydrops.
Sources: Expert list
Hydrops fetalis v0.143 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Hydrops fetalis v0.143 NPC2 Zornitza Stark Gene: npc2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.143 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, MIM# 607625
Review for gene: NPC2 was set to RED
Added comment: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease.
Sources: Expert list
Hydrops fetalis v0.142 RYR1 Zornitza Stark edited their review of gene: RYR1: Changed rating: GREEN
Hydrops fetalis v0.142 MID1 Zornitza Stark Marked gene: MID1 as ready
Hydrops fetalis v0.142 MID1 Zornitza Stark Gene: mid1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.142 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MID1 were set to 3517843; 24863803
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I 300000
Review for gene: MID1 was set to RED
Added comment: Two reports of hydrops in Opitz G, in the context of complex congenital heart disease, one of them dating back to 1986, not molecularly confirmed.
Sources: Expert list
Hydrops fetalis v0.141 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Hydrops fetalis v0.141 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.141 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500
Review for gene: MAN2B1 was set to RED
Added comment: Cannot find reports of hydrops associated with this particular lysosomal disorder.
Sources: Expert list
Hydrops fetalis v0.140 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Hydrops fetalis v0.140 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.140 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Hydrops fetalis v0.140 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.139 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 26537577; 32442335
Phenotypes for gene: LARS2 were set to Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021
Review for gene: LARS2 was set to GREEN
Added comment: Three families reported with multi-system disease including hydrops.
Sources: Expert list
Hydrops fetalis v0.138 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Hydrops fetalis v0.138 KDM6A Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence).
Hydrops fetalis v0.138 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: KDM6A was set to Other
Publications for gene: KDM6A were set to 27568880
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867
Review for gene: KDM6A was set to RED
Added comment: Reports of hydrops in KMT2D-related Kabuki syndrome, however no specific reports of hydrops in individuals with KDM6A-related Kabuki, XLD.
Sources: Expert list
Hydrops fetalis v0.137 HEXB Zornitza Stark Marked gene: HEXB as ready
Hydrops fetalis v0.137 HEXB Zornitza Stark Gene: hexb has been classified as Red List (Low Evidence).
Hydrops fetalis v0.137 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
Review for gene: HEXB was set to RED
Added comment: Cannot find specific reports of hydrops with this lysosomal storage disorder.
Sources: Expert list
Hydrops fetalis v0.136 HEXA Zornitza Stark Marked gene: HEXA as ready
Hydrops fetalis v0.136 HEXA Zornitza Stark Gene: hexa has been classified as Red List (Low Evidence).
Hydrops fetalis v0.136 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease, MIM# 272800
Review for gene: HEXA was set to RED
Added comment: Cannot find specific reports of hydrops in this lysosomal storage disorder.
Sources: Expert list
Hydrops fetalis v0.135 HBA1 Zornitza Stark Tag SV/CNV tag was added to gene: HBA1.
Hydrops fetalis v0.135 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Hydrops fetalis v0.135 HBA2 Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.135 HBA2 Zornitza Stark Phenotypes for gene: HBA2 were changed from to Thalassemia, alpha-, MIM# 604131
Hydrops fetalis v0.134 HBA2 Zornitza Stark Mode of inheritance for gene: HBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.133 HBA2 Zornitza Stark Tag SV/CNV tag was added to gene: HBA2.
Hydrops fetalis v0.133 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, alpha-, MIM# 604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.133 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Hydrops fetalis v0.133 HBA1 Zornitza Stark Gene: hba1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.133 HBA1 Zornitza Stark Phenotypes for gene: HBA1 were changed from to Thalassemias, alpha- , MIM#604131
Hydrops fetalis v0.132 HBA1 Zornitza Stark Mode of inheritance for gene: HBA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.131 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.131 HADHB Zornitza Stark Marked gene: HADHB as ready
Hydrops fetalis v0.131 HADHB Zornitza Stark Gene: hadhb has been classified as Red List (Low Evidence).
Hydrops fetalis v0.131 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 26070998
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, MIM# 609015
Review for gene: HADHB was set to RED
Added comment: Single case reported with prenatal onset cardiomyopathy and hydrops.
Sources: Expert list
Hydrops fetalis v0.130 HADHA Zornitza Stark Marked gene: HADHA as ready
Hydrops fetalis v0.130 HADHA Zornitza Stark Gene: hadha has been classified as Red List (Low Evidence).
Hydrops fetalis v0.130 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 23137060; 11111210
Phenotypes for gene: HADHA were set to LCHAD deficiency, MIM# 609016
Review for gene: HADHA was set to RED
Added comment: Gene listed in a review as a cause of fetal hydrops, single case report identified to support link.
Sources: Expert list
Hydrops fetalis v0.129 HADH Zornitza Stark Marked gene: HADH as ready
Hydrops fetalis v0.129 HADH Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence).
Hydrops fetalis v0.129 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
Review for gene: HADH was set to RED
Added comment: Cannot find specific reports of hydrops associated with this metabolic disorder.
Sources: Expert list
Hydrops fetalis v0.128 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.3768 GPI Zornitza Stark Marked gene: GPI as ready
Mendeliome v0.3768 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Mendeliome v0.3768 GPI Zornitza Stark Phenotypes for gene: GPI were changed from to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470
Mendeliome v0.3767 GPI Zornitza Stark Mode of inheritance for gene: GPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3766 GPI Zornitza Stark reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.127 GPI Zornitza Stark Marked gene: GPI as ready
Hydrops fetalis v0.127 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Hydrops fetalis v0.127 GPI Zornitza Stark Classified gene: GPI as Green List (high evidence)
Hydrops fetalis v0.127 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Hydrops fetalis v0.126 GPI Zornitza Stark gene: GPI was added
gene: GPI was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPI were set to 29227722; 3796702; 469896; 26509025
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470
Review for gene: GPI was set to GREEN
Added comment: Severe presentation with hydrops reported in at least four cases.
Sources: Expert list
Hydrops fetalis v0.125 GALC Zornitza Stark Marked gene: GALC as ready
Hydrops fetalis v0.125 GALC Zornitza Stark Gene: galc has been classified as Red List (Low Evidence).
Hydrops fetalis v0.125 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, MIM# 245200
Review for gene: GALC was set to RED
Added comment: Cannot find reports of hydrops with this specific lysosomal storage disorder.
Sources: Expert list
Hydrops fetalis v0.124 G6PD Zornitza Stark Marked gene: G6PD as ready
Hydrops fetalis v0.124 G6PD Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence).
Hydrops fetalis v0.124 G6PD Zornitza Stark Phenotypes for gene: G6PD were changed from emolytic anemia, G6PD deficient (favism), MIM# 300908 to Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Hydrops fetalis v0.123 G6PD Zornitza Stark edited their review of gene: G6PD: Changed phenotypes: Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Hydrops fetalis v0.123 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: G6PD were set to 23719252; 24999569
Phenotypes for gene: G6PD were set to emolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to RED
Added comment: Two case reports identified. However, a second diagnosis was present in both and the G6PD deficiency may have contributed to severity rather than being the primary factor.
Sources: Expert list
Hydrops fetalis v0.122 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Hydrops fetalis v0.122 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.122 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis, MIM# 230000
Review for gene: FUCA1 was set to RED
Added comment: Cannot find specific reports of hydrops in this lysosomal disorder, though several others can present with hydrops.
Sources: Expert list
Hydrops fetalis v0.121 DMPK Zornitza Stark edited their review of gene: DMPK: Changed publications: 9134395, 8140064; Changed phenotypes: Myotonic dystrophy 1, MIM# 160900
Hydrops fetalis v0.121 EBP Zornitza Stark Marked gene: EBP as ready
Hydrops fetalis v0.121 EBP Zornitza Stark Gene: ebp has been classified as Red List (Low Evidence).
Hydrops fetalis v0.121 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: EBP was set to Other
Publications for gene: EBP were set to 23137060
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Review for gene: EBP was set to RED
Added comment: XLD. Listed as a cause of hydrops in a review, cannot find reported cases.
Sources: Expert list
Hydrops fetalis v0.120 FH Zornitza Stark Marked gene: FH as ready
Hydrops fetalis v0.120 FH Zornitza Stark Gene: fh has been classified as Red List (Low Evidence).
Hydrops fetalis v0.120 FH Zornitza Stark gene: FH was added
gene: FH was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FH were set to 23137060
Phenotypes for gene: FH were set to Fumarase deficiency, MIM# 606812
Review for gene: FH was set to RED
Added comment: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases.
Sources: Expert list
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Classified gene: FGFR3 as Green List (high evidence)
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.118 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR3 were set to 24075385
Phenotypes for gene: FGFR3 were set to Thanatophoric dysplasia
Review for gene: FGFR3 was set to GREEN
Added comment: Severe FGFR3-related disease can cause reduced fetal movements and hydrops.
Sources: Expert list
Hydrops fetalis v0.117 DMPK Zornitza Stark Marked gene: DMPK as ready
Hydrops fetalis v0.117 DMPK Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.117 DMPK Zornitza Stark Tag STR tag was added to gene: DMPK.
Hydrops fetalis v0.117 DMPK Zornitza Stark Classified gene: DMPK as Green List (high evidence)
Hydrops fetalis v0.117 DMPK Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.116 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMPK were set to 9134395
Phenotypes for gene: DMPK were set to Myotonic dystrophy 1, MIM# 160900
Review for gene: DMPK was set to GREEN
Added comment: Reduced fetal movements and hydrops reported. Note triplet expansion may not be tractable depending on the assay used.
Sources: Expert list
Hydrops fetalis v0.115 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Hydrops fetalis v0.115 AKT3 Zornitza Stark Gene: akt3 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.115 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT3 were set to 23754335
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Review for gene: AKT3 was set to RED
Added comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Marked gene: SMARCAD1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Gene: smarcad1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Classified gene: SMARCAD1 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Gene: smarcad1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 SMARCAD1 Paul De Fazio gene: SMARCAD1 was added
gene: SMARCAD1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCAD1 were set to 26932190; 24664640
Phenotypes for gene: SMARCAD1 were set to Basan syndrome (MIM#129200)
Review for gene: SMARCAD1 was set to AMBER
gene: SMARCAD1 was marked as current diagnostic
Added comment: Associated with Basan syndrome which can present with Palmoplantar Keratoderma although it is not a major feature.

Two families with Basan syndrome where some individuals have PPK are described in 26932190 and 24664640.

Amber in PanelApp GEL
Sources: Literature
Ichthyosis v0.87 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Ichthyosis v0.87 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Ichthyosis v0.87 SNAP29 Zornitza Stark Classified gene: SNAP29 as Green List (high evidence)
Ichthyosis v0.87 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Marked gene: KRT16 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Gene: krt16 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Phenotypes for gene: KRT16 were changed from to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.40 KRT16 Zornitza Stark Publications for gene: KRT16 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.39 KRT16 Zornitza Stark Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000); Dermatopathia pigmentosa reticularis (MIM#125595)
Palmoplantar Keratoderma and Erythrokeratoderma v0.37 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.36 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.35 JUP Zornitza Stark Marked gene: JUP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.35 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.35 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Naxos disease (MIM#601214)
Palmoplantar Keratoderma and Erythrokeratoderma v0.34 JUP Zornitza Stark Publications for gene: JUP were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.33 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3766 KANK2 Zornitza Stark Marked gene: KANK2 as ready
Mendeliome v0.3766 KANK2 Zornitza Stark Gene: kank2 has been classified as Green List (High Evidence).
Mendeliome v0.3766 KANK2 Zornitza Stark Phenotypes for gene: KANK2 were changed from to Palmoplantar keratoderma and woolly hair (MIM#616099); Nephrotic syndrome, type 16, MIM#617783
Mendeliome v0.3765 KANK2 Zornitza Stark Publications for gene: KANK2 were set to
Mendeliome v0.3764 KANK2 Zornitza Stark Mode of inheritance for gene: KANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3763 KANK2 Zornitza Stark reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25961457, 24671081; Phenotypes: Palmoplantar keratoderma and woolly hair (MIM#616099), Nephrotic syndrome, type 16, MIM#617783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Marked gene: KANK2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Gene: kank2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Tag founder tag was added to gene: KANK2.
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Classified gene: KANK2 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Gene: kank2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.31 GJB6 Zornitza Stark Marked gene: GJB6 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.31 GJB6 Zornitza Stark Gene: gjb6 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.31 GJB6 Zornitza Stark Phenotypes for gene: GJB6 were changed from to Ectodermal dysplasia 2, Clouston type (MIM# 129500)
Palmoplantar Keratoderma and Erythrokeratoderma v0.30 GJB6 Zornitza Stark Publications for gene: GJB6 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.29 GJB6 Zornitza Stark Mode of inheritance for gene: GJB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.28 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.28 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.28 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100); Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)
Palmoplantar Keratoderma and Erythrokeratoderma v0.27 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.26 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3763 FAM83G Zornitza Stark Marked gene: FAM83G as ready
Mendeliome v0.3763 FAM83G Zornitza Stark Gene: fam83g has been classified as Red List (Low Evidence).
Mendeliome v0.3763 FAM83G Zornitza Stark gene: FAM83G was added
gene: FAM83G was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to 29138053
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma, curly scalp hair and toenail dystrophy
Review for gene: FAM83G was set to RED
Added comment: PMID: 29138053; - 2 siblings born of consanguineous family presented with palmoplantar keratoderma and exuberant curly scalp hair - progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years > homozygous for a missense p.(Ala34Glu)
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Marked gene: FAM83G as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Gene: fam83g has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Classified gene: FAM83G as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Gene: fam83g has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.24 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.24 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.24 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from to Cole disease (MIM#615522)
Palmoplantar Keratoderma and Erythrokeratoderma v0.23 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.22 ENPP1 Zornitza Stark Mode of inheritance for gene: ENPP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.86 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Ichthyosis v0.86 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Ichthyosis v0.86 ELOVL4 Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence)
Ichthyosis v0.86 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Mendeliome v0.3762 LONP2 Zornitza Stark Marked gene: LONP2 as ready
Mendeliome v0.3762 LONP2 Zornitza Stark Gene: lonp2 has been classified as Red List (Low Evidence).
Mendeliome v0.3762 LONP2 Zornitza Stark Classified gene: LONP2 as Red List (low evidence)
Mendeliome v0.3762 LONP2 Zornitza Stark Gene: lonp2 has been classified as Red List (Low Evidence).
Mendeliome v0.3761 CAST Zornitza Stark Marked gene: CAST as ready
Mendeliome v0.3761 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Mendeliome v0.3761 CAST Zornitza Stark Phenotypes for gene: CAST were changed from to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)
Mendeliome v0.3760 CAST Zornitza Stark Publications for gene: CAST were set to
Mendeliome v0.3759 CAST Zornitza Stark Mode of inheritance for gene: CAST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3758 CAST Zornitza Stark reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683118, 31392520, 30656735, 28851602; Phenotypes: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.21 CAST Zornitza Stark Marked gene: CAST as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.21 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.21 CAST Zornitza Stark Phenotypes for gene: CAST were changed from to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)
Palmoplantar Keratoderma and Erythrokeratoderma v0.20 CAST Zornitza Stark Publications for gene: CAST were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.19 CAST Zornitza Stark Mode of inheritance for gene: CAST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3758 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Mendeliome v0.3758 CARD14 Zornitza Stark Gene: card14 has been classified as Green List (High Evidence).
Mendeliome v0.3758 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from to Pityriasis rubra pilaris (MIM#173200)
Mendeliome v0.3757 CARD14 Zornitza Stark Publications for gene: CARD14 were set to
Mendeliome v0.3756 CARD14 Zornitza Stark Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3755 CARD14 Zornitza Stark reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22703878, 27760266; Phenotypes: Pityriasis rubra pilaris (MIM#173200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.18 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.18 CARD14 Zornitza Stark Gene: card14 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.18 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from to Pityriasis rubra pilaris (MIM#173200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.17 CARD14 Zornitza Stark Publications for gene: CARD14 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.16 CARD14 Zornitza Stark Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.85 ABCA12 Zornitza Stark Marked gene: ABCA12 as ready
Ichthyosis v0.85 ABCA12 Zornitza Stark Gene: abca12 has been classified as Green List (High Evidence).
Ichthyosis v0.85 ABCA12 Zornitza Stark Phenotypes for gene: ABCA12 were changed from to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
Ichthyosis v0.84 ABCA12 Zornitza Stark Publications for gene: ABCA12 were set to
Ichthyosis v0.83 ABCA12 Zornitza Stark Mode of inheritance for gene: ABCA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3755 TRPV3 Zornitza Stark Marked gene: TRPV3 as ready
Mendeliome v0.3755 TRPV3 Zornitza Stark Gene: trpv3 has been classified as Green List (High Evidence).
Mendeliome v0.3755 TRPV3 Zornitza Stark Phenotypes for gene: TRPV3 were changed from to Olmsted syndrome, MIM# 614594
Mendeliome v0.3754 TRPV3 Zornitza Stark Publications for gene: TRPV3 were set to
Mendeliome v0.3753 TRPV3 Zornitza Stark Mode of inheritance for gene: TRPV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3752 TRPV3 Zornitza Stark reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25285920, 22405088, 24452206; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark edited their review of gene: TRPV3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark Marked gene: TRPV3 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark Gene: trpv3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark Phenotypes for gene: TRPV3 were changed from to Olmsted syndrome, MIM# 614594
Palmoplantar Keratoderma and Erythrokeratoderma v0.14 TRPV3 Zornitza Stark Publications for gene: TRPV3 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.13 TRPV3 Zornitza Stark Mode of pathogenicity for gene: TRPV3 was changed from to Other
Palmoplantar Keratoderma and Erythrokeratoderma v0.12 TRPV3 Zornitza Stark Mode of inheritance for gene: TRPV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 TRPV3 Zornitza Stark reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25285920, 22405088, 24452206; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 SNAP29 Paul De Fazio reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 15968592, 21073448, 25958742, 29051910; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 AAGAB Zornitza Stark Marked gene: AAGAB as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 AAGAB Zornitza Stark Gene: aagab has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 AAGAB Zornitza Stark Phenotypes for gene: AAGAB were changed from to Keratoderma, palmoplantar, punctate type IA (MIM#148600)
Palmoplantar Keratoderma and Erythrokeratoderma v0.10 AAGAB Zornitza Stark Publications for gene: AAGAB were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.9 AAGAB Zornitza Stark Mode of inheritance for gene: AAGAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.82 SNAP29 Paul De Fazio edited their review of gene: SNAP29: Changed rating: GREEN; Changed publications: 15968592, 21073448, 25958742, 29051910
Ichthyosis v0.82 SNAP29 Paul De Fazio gene: SNAP29 was added
gene: SNAP29 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 15968592; 21073448
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Review for gene: SNAP29 was set to AMBER
gene: SNAP29 was marked as current diagnostic
Added comment: At least 5 families with biallelic LoF variants associated with a multisystem disorder that includes both ichthyosis and palmar keratoderma later in development.

PMID 15968592: Describes individuals from 2 unrelated consanguineous Arab Muslim families with CEDNIK syndrome. Palmoplantar keratosis and ichthyosis appeared between 5 and 11 months of age. Variant was a homozygous frameshift.

PMID 21073448: Brother and sister from a consanguineous Pakistani family with CEDNIK syndrome. Phenotypes included palmoplantar keratosis and ichthyosis. Variant was a homozygous frameshift (8 hets in gnomAD).

PMID 25958742: describes another Arab family with a homozygous frameshift variant.

PMID 29051910: one more American Jordanian family with a homozygous nonsense variant.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KRT16 Naomi Baker reviewed gene: KRT16: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8595410, 10839714; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000), Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KRT14 Ain Roesley reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 16960809, 19040520; Phenotypes: Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000), Dermatopathia pigmentosa reticularis (MIM#125595); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 JUP Naomi Baker reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10902626, 20130592; Phenotypes: Naxos disease (MIM#601214); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.114 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Hydrops fetalis v0.114 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.114 PRF1 Zornitza Stark Classified gene: PRF1 as Green List (high evidence)
Hydrops fetalis v0.114 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KANK2 Ain Roesley changed review comment from: PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*no additional reports in pubmed
Sources: Literature; to: PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*caution: disease association doesnt have ? in OMIM
*no additional reports in pubmed
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KANK2 Ain Roesley gene: KANK2 was added
gene: KANK2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to 24671081
Phenotypes for gene: KANK2 were set to Palmoplantar keratoderma and woolly hair (MIM#616099)
Penetrance for gene: KANK2 were set to unknown
Review for gene: KANK2 was set to RED
Added comment: PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*no additional reports in pubmed
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 GJB6 Ain Roesley reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23219093, 19416251, 27137747; Phenotypes: Ectodermal dysplasia 2, Clouston type (MIM# 129500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Marked gene: FYB1 as ready
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Gene: fyb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Classified gene: FYB1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Gene: fyb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.85 FYB1 Zornitza Stark gene: FYB1 was added
gene: FYB1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FYB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FYB1 were set to 25516138; 25876182
Phenotypes for gene: FYB1 were set to Thrombocytopenia 3, MIM# 273900
Review for gene: FYB1 was set to AMBER
Added comment: Two families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.84 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Bleeding and Platelet Disorders v0.84 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.84 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349
Bleeding and Platelet Disorders v0.83 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Bleeding and Platelet Disorders v0.82 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.81 FOXE3 Zornitza Stark Classified gene: FOXE3 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.81 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.80 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.80 FLNA Zornitza Stark Marked gene: FLNA as ready
Bleeding and Platelet Disorders v0.80 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.80 FLNA Zornitza Stark Publications for gene: FLNA were set to
Bleeding and Platelet Disorders v0.79 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to Macrothrombocytopaenia
Bleeding and Platelet Disorders v0.78 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.77 FLNA Zornitza Stark reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32299270; Phenotypes: Macrothrombocytopaenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Marked gene: FLI1 as ready
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Gene: fli1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Classified gene: FLI1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Gene: fli1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.76 FLI1 Zornitza Stark gene: FLI1 was added
gene: FLI1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLI1 were set to 24100448; 28255014; 26316623
Phenotypes for gene: FLI1 were set to Bleeding disorder, platelet-type, 21, MIM# 617443
Review for gene: FLI1 was set to GREEN
Added comment: Association with mono-allelic variants better established than bi-allelic variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.75 Zornitza Stark removed gene:FLII from the panel
Bleeding and Platelet Disorders v0.74 FLII Zornitza Stark gene: FLII was added
gene: FLII was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FLII was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLII were set to 24100448; 28255014; 26316623
Phenotypes for gene: FLII were set to Bleeding disorder, platelet-type, 21, MIM# 617443
Review for gene: FLII was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Marked gene: FERMT3 as ready
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Classified gene: FERMT3 as Green List (high evidence)
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.72 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840
Review for gene: FERMT3 was set to GREEN
Added comment: Epistaxis, mucosal bleeding, defective platelet adhesion.
Sources: Expert list
Bleeding and Platelet Disorders v0.71 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Bleeding and Platelet Disorders v0.71 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.71 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700
Bleeding and Platelet Disorders v0.70 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.69 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Marked gene: ETV6 as ready
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Classified gene: ETV6 as Green List (high evidence)
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.68 ETV6 Zornitza Stark gene: ETV6 was added
gene: ETV6 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETV6 were set to 25581430; 25807284
Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216
Review for gene: ETV6 was set to GREEN
Added comment: At least 6 families reported.
Sources: Expert list
Mendeliome v0.3752 EPHB2 Zornitza Stark Marked gene: EPHB2 as ready
Mendeliome v0.3752 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3752 EPHB2 Zornitza Stark Phenotypes for gene: EPHB2 were changed from to Bleeding disorder, platelet-type, 22, MIM# 618462
Mendeliome v0.3751 EPHB2 Zornitza Stark Publications for gene: EPHB2 were set to
Mendeliome v0.3750 EPHB2 Zornitza Stark Mode of inheritance for gene: EPHB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3749 EPHB2 Zornitza Stark Classified gene: EPHB2 as Amber List (moderate evidence)
Mendeliome v0.3749 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3748 EPHB2 Zornitza Stark reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30213874, 25370417; Phenotypes: Bleeding disorder, platelet-type, 22, MIM# 618462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.188 EPHB2 Zornitza Stark changed review comment from: Cannot find evidence of gene-disease association in humans.; to: Experimental evidence for a role of Ephb2 in corpus callosum formation but cannot find reports of variants linking to CC abnormalities in humans.
Callosome v0.188 EPHB2 Zornitza Stark Marked gene: EPHB2 as ready
Callosome v0.188 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Red List (Low Evidence).
Callosome v0.188 EPHB2 Zornitza Stark Publications for gene: EPHB2 were set to
Callosome v0.187 EPHB2 Zornitza Stark Classified gene: EPHB2 as Red List (low evidence)
Callosome v0.187 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Red List (Low Evidence).
Callosome v0.186 EPHB2 Zornitza Stark reviewed gene: EPHB2: Rating: RED; Mode of pathogenicity: None; Publications: 26148571; Phenotypes: ; Mode of inheritance: None
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Marked gene: EPHB2 as ready
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Classified gene: EPHB2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Classified gene: EPHB2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.66 EPHB2 Zornitza Stark gene: EPHB2 was added
gene: EPHB2 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: EPHB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPHB2 were set to 30213874; 25370417
Phenotypes for gene: EPHB2 were set to Bleeding disorder, platelet-type, 22, MIM# 618462
Review for gene: EPHB2 was set to AMBER
Added comment: Single family and a mouse model.
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 GJA1 Ain Roesley reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25398053, 25168385, 30811667; Phenotypes: Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100), Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Marked gene: ENG as ready
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.64 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Review for gene: ENG was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 FAM83G Ain Roesley gene: FAM83G was added
gene: FAM83G was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to PMID: 29138053
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma, curly scalp hair and toenail dystrophy
Penetrance for gene: FAM83G were set to unknown
Review for gene: FAM83G was set to RED
Added comment: PMID: 29138053;
- 2 siblings born of consanguineous family presented with palmoplantar keratoderma and exuberant curly scalp hair
- progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years
> homozygous for a missense p.(Ala34Glu)
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 ENPP1 Ain Roesley reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24075184, 32598042; Phenotypes: Cole disease (MIM#615522); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis v0.82 ELOVL4 Ain Roesley gene: ELOVL4 was added
gene: ELOVL4 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELOVL4 were set to 22100072; 24571530
Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)
Penetrance for gene: ELOVL4 were set to unknown
Review for gene: ELOVL4 was set to GREEN
Added comment: PMID: 22100072;
- 1x proband born of consanguineous parents with congenital ichthyosis, profound developmental delay, recalcitrant seizures, severe hypertonia in the upper and lower extremities
> homozygous for a nonsense variant

- 1x proband born of consanguineous parents with congenital ichthyosis, myoclonic seizures, profound motor delay
> homozygous for a frameshift

PMID: 24571530;
- 1x consanguineous family with 3 affecteds with congenital ichthyosis
- Intellectual disability and spastic quadriplegia were observed only in 1 of the patients
> homozygous for a nonsense
Sources: Literature
Mendeliome v0.3748 LONP2 Naomi Baker reviewed gene: LONP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 CAST Ain Roesley reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683118, 31392520, 30656735, 28851602; Phenotypes: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 CARD14 Ain Roesley reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22703878, 27760266; Phenotypes: Pityriasis rubra pilaris (MIM#173200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis v0.82 ABCA12 Ain Roesley reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31168818, 19664001, 31489029; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.57 CYLD Bryony Thompson Classified gene: CYLD as Amber List (moderate evidence)
Early-onset Dementia v0.57 CYLD Bryony Thompson Gene: cyld has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.56 CYLD Bryony Thompson reviewed gene: CYLD: Rating: AMBER; Mode of pathogenicity: None; Publications: 32666117, 32666099, 32185393; Phenotypes: frontotemporal dementia, amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 AAGAB Ain Roesley reviewed gene: AAGAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30451279, 26608363; Phenotypes: Keratoderma, palmoplantar, punctate type IA (MIM#148600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.62 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIAPH1 were set to 26912466; 27808407]
Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Review for gene: DIAPH1 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Marked gene: CYCS as ready
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Gene: cycs has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Classified gene: CYCS as Green List (high evidence)
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Gene: cycs has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.60 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYCS were set to 24326104; 18345000; 30051457
Phenotypes for gene: CYCS were set to Thrombocytopenia 4, MIM# 612004
Review for gene: CYCS was set to GREEN
Added comment: At least three families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.59 COL5A2 Zornitza Stark Marked gene: COL5A2 as ready
Bleeding and Platelet Disorders v0.59 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.59 COL5A2 Zornitza Stark Phenotypes for gene: COL5A2 were changed from to Ehlers-Danlos syndrome, classic type, 2, MIM# 130010
Bleeding and Platelet Disorders v0.58 COL5A2 Zornitza Stark Mode of inheritance for gene: COL5A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.57 COL5A2 Zornitza Stark Classified gene: COL5A2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.57 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.56 COL5A2 Zornitza Stark reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2, MIM# 130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.56 COL5A1 Zornitza Stark Marked gene: COL5A1 as ready
Bleeding and Platelet Disorders v0.56 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.56 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from to Ehlers-Danlos syndrome, classic type, MIM# 130000
Bleeding and Platelet Disorders v0.55 COL5A1 Zornitza Stark Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.54 COL5A1 Zornitza Stark Classified gene: COL5A1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.54 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.53 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, MIM# 130000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark edited their review of gene: COL3A1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050
Bleeding and Platelet Disorders v0.52 COL3A1 Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.51 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Classified gene: CHST14 as Green List (high evidence)
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.50 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CHST14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Review for gene: CHST14 was set to GREEN
Added comment: Large haematomas are a feature.
Sources: Expert list
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Marked gene: CDC42 as ready
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Classified gene: CDC42 as Green List (high evidence)
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.48 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to 29394990
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome, MIM#616737
Review for gene: CDC42 was set to GREEN
Added comment: Well established gene-disease association. Macrothrombocytopaenia is a feature.
Sources: Expert list
Bleeding and Platelet Disorders v0.47 CBS Zornitza Stark Marked gene: CBS as ready
Bleeding and Platelet Disorders v0.47 CBS Zornitza Stark Gene: cbs has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.47 CBS Zornitza Stark Phenotypes for gene: CBS were changed from to Thrombosis, hyperhomocysteinemic, MIM# 236200; Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200
Bleeding and Platelet Disorders v0.46 CBS Zornitza Stark Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.45 CBS Zornitza Stark Classified gene: CBS as Red List (low evidence)
Bleeding and Platelet Disorders v0.45 CBS Zornitza Stark Gene: cbs has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.44 CBS Zornitza Stark reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombosis, hyperhomocysteinemic, MIM# 236200, Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Green List (high evidence)
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.43 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S6 were set to 32245340; 22461475
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, MIM# 614171
Review for gene: BLOC1S6 was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.41 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC1B were set to 28368018; 27965109; 29127144; 30254128
Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718
Review for gene: ARPC1B was set to GREEN
Added comment: At least 9 unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26.
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Classified gene: ANKRD26 as Green List (high evidence)
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.38 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD26 were set to 21211618
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2, MIM# 188000
Review for gene: ANKRD26 was set to GREEN
Added comment: Note promoter variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Classified gene: ADAMTS13 as Green List (high evidence)
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.36 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ADAMTS13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAMTS13 were set to 11586351
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Review for gene: ADAMTS13 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.34 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Review for gene: ACVRL1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Mendeliome v0.3748 ACTN1 Zornitza Stark Marked gene: ACTN1 as ready
Mendeliome v0.3748 ACTN1 Zornitza Stark Gene: actn1 has been classified as Green List (High Evidence).
Mendeliome v0.3748 ACTN1 Zornitza Stark Phenotypes for gene: ACTN1 were changed from to Bleeding disorder, platelet-type, 15, MIM# 615193
Mendeliome v0.3747 ACTN1 Zornitza Stark Publications for gene: ACTN1 were set to
Mendeliome v0.3746 ACTN1 Zornitza Stark Mode of inheritance for gene: ACTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3745 ACTN1 Zornitza Stark reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434115; Phenotypes: Bleeding disorder, platelet-type, 15, MIM# 615193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Marked gene: ACTN1 as ready
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Gene: actn1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Classified gene: ACTN1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Gene: actn1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.32 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN1 were set to 23434115
Phenotypes for gene: ACTN1 were set to Bleeding disorder, platelet-type, 15, MIM# 615193
Review for gene: ACTN1 was set to GREEN
Added comment: At least 6 unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark changed review comment from: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list; to: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB (exons 5 and 6) and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Marked gene: ACTB as ready
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Classified gene: ACTB as Green List (high evidence)
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.30 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 30315159
Phenotypes for gene: ACTB were set to Syndromic thrombocytopaenia
Review for gene: ACTB was set to GREEN
Added comment: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list
Bleeding and Platelet Disorders v0.29 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Bleeding and Platelet Disorders v0.29 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.29 ACTA2 Zornitza Stark Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788
Bleeding and Platelet Disorders v0.28 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.27 ACTA2 Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Marked gene: ABCG8 as ready
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Classified gene: ABCG8 as Green List (high evidence)
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.26 ABCG8 Zornitza Stark gene: ABCG8 was added
gene: ABCG8 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG8 were set to 32546081; 23556150
Phenotypes for gene: ABCG8 were set to Sitosterolemia 1, MIM# 210250
Review for gene: ABCG8 was set to GREEN
Added comment: Thrombocytopaenia is a feature of this metabolic disorder.
Sources: Expert list
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Classified gene: ABCG5 as Green List (high evidence)
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.24 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG5 were set to 32546081; 23556150
Phenotypes for gene: ABCG5 were set to Sitosterolemia 2, MIM# 618666
Review for gene: ABCG5 was set to GREEN
Added comment: Thrombocytopaenia is a feature of this metabolic disorder.
Sources: Expert list
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from to Epidermolysis bullosa, junctional, localisata variant, MIM# 226650; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epithelial recurrent erosion dystrophy, MIM# 122400
Epidermolysis bullosa v0.43 COL17A1 Zornitza Stark Mode of inheritance for gene: COL17A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.42 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, localisata variant, MIM# 226650, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epithelial recurrent erosion dystrophy, MIM# 122400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Marked gene: SERPINB8 as ready
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Classified gene: SERPINB8 as Amber List (moderate evidence)
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.41 SERPINB8 Zornitza Stark gene: SERPINB8 was added
gene: SERPINB8 was added to Epidermolysis bullosa. Sources: Expert list
Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB8 were set to 27476651
Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 (MIM#617115)
Review for gene: SERPINB8 was set to AMBER
Added comment: PMID:27476651 describes 3 families with what they refer to as exfoliative ichthyosis. Histological analysis of a skin biopsy showed disadhesion of keratinocytes in the lower epidermal layers. In vitro studies showed that in the absence of the protein, there is a cell-cell adhesion defect, supportive of this being a skin fragility disorder. Phenotype sits between ichthyosis and skin fragility, hence rated Amber on this panel.
Sources: Expert list
Mendeliome v0.3745 DSG3 Zornitza Stark Marked gene: DSG3 as ready
Mendeliome v0.3745 DSG3 Zornitza Stark Gene: dsg3 has been classified as Red List (Low Evidence).
Mendeliome v0.3745 DSG3 Zornitza Stark gene: DSG3 was added
gene: DSG3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG3 were set to 30528827
Phenotypes for gene: DSG3 were set to Mucosal blistering
Review for gene: DSG3 was set to RED
Added comment: One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*).
Sources: Expert list
Epidermolysis bullosa v0.40 DSG3 Zornitza Stark Marked gene: DSG3 as ready
Epidermolysis bullosa v0.40 DSG3 Zornitza Stark Gene: dsg3 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.40 DSG3 Zornitza Stark gene: DSG3 was added
gene: DSG3 was added to Epidermolysis bullosa. Sources: Expert list
Mode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG3 were set to 30528827
Phenotypes for gene: DSG3 were set to Mucosal blistering
Review for gene: DSG3 was set to RED
Added comment: One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*).
Sources: Expert list
Mendeliome v0.3744 ITGA9 Zornitza Stark Marked gene: ITGA9 as ready
Mendeliome v0.3744 ITGA9 Zornitza Stark Gene: itga9 has been classified as Red List (Low Evidence).
Mendeliome v0.3744 ITGA9 Zornitza Stark Classified gene: ITGA9 as Red List (low evidence)
Mendeliome v0.3744 ITGA9 Zornitza Stark Gene: itga9 has been classified as Red List (Low Evidence).
Mendeliome v0.3743 ITGA9 Zornitza Stark reviewed gene: ITGA9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Melanoma v0.2 Zornitza Stark Panel types changed to Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital
Medulloblastoma v0.2 Zornitza Stark Panel types changed to Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Marked gene: CSTB as ready
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Gene: cstb has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Classified gene: CSTB as Amber List (moderate evidence)
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Gene: cstb has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.36 CSTB Zornitza Stark Tag SV/CNV tag was added to gene: CSTB.
Mendeliome v0.3743 CSTB Ain Roesley reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: 28457472; Phenotypes: Keratolytic winter erythema (MIM#148370); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa v0.36 CSTB Ain Roesley gene: CSTB was added
gene: CSTB was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CSTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSTB were set to 28457472
Phenotypes for gene: CSTB were set to Keratolytic winter erythema (MIM#148370)
Penetrance for gene: CSTB were set to unknown
Review for gene: CSTB was set to AMBER
Added comment: PMID: 28457472; CNV
- 7 South African families with keratolytic winter erythema. Identified a noncoding 7.67-kb tandem duplication on chromosome 8 that segregated with disease and was not found in 127 controls.
- This region overlaps with an enhancer element which correlated with CTSB expression
- qPCR analysis and immunohistochemistry of the palmar epidermis demonstrated significantly increased expression of CTSB, as well as stronger staining of cathepsin B in the stratum granulosum of affected individuals than in that of control
Sources: Literature
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Classified gene: IKBKG as Green List (high evidence)
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.35 IKBKG Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG.
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Marked gene: DSG1 as ready
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Gene: dsg1 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Classified gene: DSG1 as Amber List (moderate evidence)
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Gene: dsg1 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Classified gene: KRT1 as Green List (high evidence)
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Marked gene: DSC3 as ready
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Classified gene: DSC3 as Amber List (moderate evidence)
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Marked gene: CSTA as ready
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Classified gene: CSTA as Green List (high evidence)
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Marked gene: CDSN as ready
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Classified gene: CDSN as Green List (high evidence)
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.30 KRT10 Paul De Fazio changed review comment from: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.
Sources: Literature; to: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.

EHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel.
Sources: Literature
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Classified gene: KRT10 as Green List (high evidence)
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.29 CAST Zornitza Stark Marked gene: CAST as ready
Epidermolysis bullosa v0.29 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.29 CAST Zornitza Stark Classified gene: CAST as Green List (high evidence)
Epidermolysis bullosa v0.29 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Marked gene: ATP2A2 as ready
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Classified gene: ATP2A2 as Green List (high evidence)
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Mendeliome v0.3743 ATP2C1 Ain Roesley reviewed gene: ATP2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28551824; Phenotypes: Hailey-Hailey disease (MIM# 169600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Classified gene: SLC39A4 as Green List (high evidence)
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Marked gene: ATP2C1 as ready
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Gene: atp2c1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Classified gene: ATP2C1 as Green List (high evidence)
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Gene: atp2c1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Marked gene: SLC39A7 as ready
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Classified gene: SLC39A7 as Red List (low evidence)
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.24 IKBKG Paul De Fazio gene: IKBKG was added
gene: IKBKG was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: IKBKG was set to Other
Publications for gene: IKBKG were set to 12588226; 30151858; 10839543; 11673821
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti (MIM#308300)
Review for gene: IKBKG was set to GREEN
gene: IKBKG was marked as current diagnostic
Added comment: Well-established association with Incontinentia pigmenti, which is a multi-stage disease, stage 1 of which has blister-like bullous eruptions that are linear on the extremities and/or circumferential on the trunk, which usually disappear by 18 months (GeneReviews - https://www.ncbi.nlm.nih.gov/books/NBK1472/). Most pathogenic variants are gene rearrangements or multi-exon deletions.

X-linked dominant, with presumed male lethality (although there are reports of mosaic and XXY affected males).

This gene is also associated with Ectodermal dysplasia and immunodeficiency but these associations do not fit this panel.
Sources: Literature
Epidermolysis bullosa v0.24 DSG1 Ain Roesley gene: DSG1 was added
gene: DSG1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 19558595; 23974871
Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)
Penetrance for gene: DSG1 were set to unknown
Review for gene: DSG1 was set to AMBER
Added comment: skin blistering and/or fragility reported in 2 probands

PMID: 19558595;
- 40-yr old man presented with painful thickening of the skin on his palms and soles, hyperhidrosis and intermittent associated blistering, since childhood
- heterozygous p.(Arg144*)

PMID: 23974871;
(authors are calling it SAM syndrome)
- 2 families in this report with 1 individual presenting with skin erosions and scaling homozygous for c.49–1G>A
Sources: Literature
Epidermolysis bullosa v0.24 KRT1 Paul De Fazio gene: KRT1 was added
gene: KRT1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT1 were set to 7511022; 21271994
Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis (MIM#113800; Epidermolytic ichthyosis
Review for gene: KRT1 was set to GREEN
gene: KRT1 was marked as current diagnostic
Added comment: Well-established gene-disease association. Associated with Epidermolytic hyperkeratosis, Ichthyosis, and Palmoplantar keratoderma. OMIM says AD and AR associations for EHK but this seems to apply to KRT10, not KRT1. Multiple families reported mostly with EHK (also referred to as epidermolytic ichthyosis in the literature? I'm unsure about the phenotype distinctions).

EHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel.
Sources: Literature
Epidermolysis bullosa v0.24 DSC3 Ain Roesley gene: DSC3 was added
gene: DSC3 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC3 were set to 19765682; 20159115; 24690439; 31790667
Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles (MIM# 613102)
Penetrance for gene: DSC3 were set to unknown
Review for gene: DSC3 was set to AMBER
Added comment: PMID: 19765682;
- large family from Afghanistan with 4x affecteds with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation
- homozygous for p.(Leu710*)

However, Payne 2010 (PMID: 20159115) and Fine 2014 (PMID: 24690439) argued that no definitive clinical or histopathologic evidence of blistering was presented. This family's phenotype is more consistent with a different skin disorder known as keratosis pilaris, which is associated with follicular plugging on histology.

PMID: 31790667;
- 1x proband born to consanguineous Egyptian parents with unequivocal skin blistering and hypotrichosis. From 4 years of age, he started to develop blisters on his hands, feet, and knees, as well as at sites of trauma
- homozygous for p.(Leu727*)
- Immunofluorescence microscopy in patient’s skin revealed a complete absence of DSC3 labeling, consistent with nonsense-mediated RNA decay
Sources: Literature
Epidermolysis bullosa v0.24 CSTA Ain Roesley gene: CSTA was added
gene: CSTA was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 23534700; 25400170; 21944047
Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 (MIM#607936)
Penetrance for gene: CSTA were set to unknown
Review for gene: CSTA was set to GREEN
Added comment: PMID: 23534700;
- large consanguineous Jordanian American pedigree with acral peeling skin syndrome (APSS) that affected 10 individuals over four generations.
- homozygous for p(.Lys22*)

PMID: 25400170;
- 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmo plantar peeling of the skin
- homozygous for p.(Arg58T*)

PMID: 21944047;
- 1x consanguineous family of Bedouin origin homoyzgous for c.67-2A>T
-> minigene assays demonstrated skipping of the first 12 base pairs of exon 2 of CSTA
- 1x consanguineous family Turkish origin homozygous for p.(Gln86*)
Sources: Literature
Epidermolysis bullosa v0.24 CDSN Ain Roesley gene: CDSN was added
gene: CDSN was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 23957618; 20691404; 21191406; 25473393
Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 (MIM#270300)
Penetrance for gene: CDSN were set to unknown
Review for gene: CDSN was set to GREEN
Added comment: Also known as TypeB

PMID: 23957618;
1x Caucasian female with homozygous p.(Gly142*)

PMID: 20691404;
4x in a large consanguineous Roma family from Germany with homozygous p.(Lys59*)

PMID: 21191406;
1x Jewish male from a consanguineous family with homozygous p.(Gly249Valfs40)

PMID: 25473393;
1x japanese female from consanguineous family with homozygous p.(Ser453Asn)
Sources: Literature
Epidermolysis bullosa v0.24 KRT10 Paul De Fazio gene: KRT10 was added
gene: KRT10 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT10 were set to 1380725; 1381287; 7508181; 20798280; 16505000; 18219278; 19474805
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (MIM#113800); Ichthyosis with confetti (MIM#609165); Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)
Review for gene: KRT10 was set to GREEN
gene: KRT10 was marked as current diagnostic
Added comment: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.
Sources: Literature
Epidermolysis bullosa v0.24 CAST Ain Roesley gene: CAST was added
gene: CAST was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAST were set to 25683118
Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)
Penetrance for gene: CAST were set to unknown
Review for gene: CAST was set to GREEN
Added comment: PMID: 25683118;

1x Chinese proband from a consanguineous family. She presented with trauma-induced recurrent blistering prominently on the extremities since infancy, which was worse in summer. In winter, asymptomatic skin peeling was more prominent . Homozygous for c.607dup; p.(Ile203Asnfs*8)
-> RT-PCR of mRNA from this patient's skin demonstrated NMD
- 1x Nepalese proband from non-consanguineous parents with history of painful lesions on the palms and soles. Homozygous for c.424A>T ; p.(Lys142*)
- 1x European sibling pair with history of blistering and peeling of skin. Homozygous for c.1750delG p.(*Val584Trpfs*37)
Sources: Literature
Epidermolysis bullosa v0.24 ATP2A2 Ain Roesley gene: ATP2A2 was added
gene: ATP2A2 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2A2 were set to 10441324; 17635506
Phenotypes for gene: ATP2A2 were set to Darier disease (MIM#124200)
Penetrance for gene: ATP2A2 were set to unknown
Review for gene: ATP2A2 was set to GREEN
Added comment: Characteristic lesions in DD are hyperkeratotic, erythematous, pruritic plaques that may ulcerate, scale and turn gray, getcrusted, or coalesce into larger lesions.
Acral haemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities.


Haemorrhagic DD described in
PMID: 10441324;
2 unrelated Italian families + 1 scottish family with p.(Asn767Ser)
1 Swedish family with p.(Cys268Phe)

PMID: 17635506;
1 Japanese family with 9 affecteds harbouring p.(Asn767Ser)
Sources: Literature
Epidermolysis bullosa v0.24 SLC39A4 Paul De Fazio gene: SLC39A4 was added
gene: SLC39A4 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 19370757
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (MIM#201100)
Review for gene: SLC39A4 was set to GREEN
gene: SLC39A4 was marked as current diagnostic
Added comment: Well-established gene-disease association. PMID:19370757 summarises 22 families with identified biallelic variants as of 2009 (although some families have only one or no variants identified).

Disease is characterised by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous.
Sources: Literature
Polymicrogyria and Schizencephaly v0.92 SCN3A Zornitza Stark Publications for gene: SCN3A were set to 30146301
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Deleted their comment
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark edited their review of gene: SCN3A: Added comment: Six unrelated families reported with prominent speech and oral motor dysfunction but no epilepsy, some multiplex in PMID: 30146301. Additionally malformations of cortical development reported in ~75% of a cohort of 22 individuals with a broader neurodevelomental phenotype, including epilepsy, PMID: 32515017; Changed rating: GREEN; Changed publications: 32515017, 30146301; Changed phenotypes: Polymicrogyria, malformations of cortical development, epilepsy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Marked gene: SCN3A as ready
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Added comment: Comment when marking as ready: Six unrelated families reported, some multiplex.
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Classified gene: SCN3A as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Mendeliome v0.3743 MADD Zornitza Stark Marked gene: MADD as ready
Mendeliome v0.3743 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Mendeliome v0.3743 MADD Zornitza Stark Phenotypes for gene: MADD were changed from to Intellectual disability; seizures; autonomic dysfunction; endocrine dysfunction
Mendeliome v0.3742 MADD Zornitza Stark Publications for gene: MADD were set to
Mendeliome v0.3741 MADD Zornitza Stark Mode of inheritance for gene: MADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3740 MADD Zornitza Stark reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: Intellectual disability, seizures, autonomic dysfunction, endocrine dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.24 ATP2C1 Ain Roesley gene: ATP2C1 was added
gene: ATP2C1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2C1 were set to 28551824
Phenotypes for gene: ATP2C1 were set to Hailey-Hailey disease (MIM# 169600)
Penetrance for gene: ATP2C1 were set to unknown
Review for gene: ATP2C1 was set to GREEN
Added comment: Skin blistering is a feature of Hailey-Hailey disease.

PMID: 28551824;
At least 177 variants reported in this gene for Hailey-Hailey disease
Sources: Literature
Epidermolysis bullosa v0.24 SLC39A7 Paul De Fazio changed review comment from: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

The two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature; to: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

Phenoypes are mostly immunological but the two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature
Epidermolysis bullosa v0.24 SLC39A7 Paul De Fazio gene: SLC39A7 was added
gene: SLC39A7 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Absent B cells; Agammaglobulinemia; Early onset infections
Review for gene: SLC39A7 was set to RED
gene: SLC39A7 was marked as current diagnostic
Added comment: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

The two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature
Genetic Epilepsy v0.775 MADD Zornitza Stark Marked gene: MADD as ready
Genetic Epilepsy v0.775 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.775 MADD Zornitza Stark Classified gene: MADD as Green List (high evidence)
Genetic Epilepsy v0.775 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.90 SCN3A Chloe Stutterd edited their review of gene: SCN3A: Changed publications: 30146301, 29740860
Polymicrogyria and Schizencephaly v0.90 SCN3A Chloe Stutterd gene: SCN3A was added
gene: SCN3A was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN3A were set to 30146301
Phenotypes for gene: SCN3A were set to Polymicrogyria; epileptic encephalopathy
Review for gene: SCN3A was set to GREEN
gene: SCN3A was marked as current diagnostic
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2835 MADD Konstantinos Varvagiannis reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: Global developmental delay / Intellectual disability / Seizures, Global developmental delay / Intellectual disability / Seizures / Abnormality of the endocrine system / Exocrine pancreatic insufficiency / Constipation / Diarrhea / Anemia / Thrombocytopenia / Abnormality of the autonomic nervous system; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.774 MADD Konstantinos Varvagiannis gene: MADD was added
gene: MADD was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MADD were set to 28940097; 29302074; 32761064
Phenotypes for gene: MADD were set to Global developmental delay / Intellectual disability / Seizures; Global developmental delay / Intellectual disability / Seizures / Abnormality of the endocrine system / Exocrine pancreatic insufficiency / Constipation / Diarrhea / Anemia / Thrombocytopenia / Abnormality of the autonomic nervous system
Penetrance for gene: MADD were set to Complete
Review for gene: MADD was set to GREEN
Added comment: There are 3 reports on the phenotype of individuals with biallelic pathogenic MADD variants. Clinical presentation appears to be relevant for inclusion of this gene in both ID and epilepsy panels. A recent study provides extensive clinical details and suggests that the phenotype may range from DD/ID to a severe pleiotropic disorder characterized by severe DD (and ID), sensory and autonomic dysfunction, exocrine and endocrine insufficiency and haematological anomalies). Seizures have been reported in several individuals with either presentation.
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Anazi et al (2017 - PMID: 28940097) identified MADD as a potential ID gene. The authors described a girl with profound DD and seizures among other features. The child, deceased at the age of 14m, was born to consanguineous Saoudi parents and was found to harbour a homozygous missense SNV [NM_003682.3:c.2930T>G:p.(Val977Gly)]. Through GeneMatcher, the authors identified a further 6 y.o. girl, compound heterozygous for a missense and a stopgain variant [NM_003682.3:c.593G>A:p.(Arg198His) and c.979C>T:p.(Arg327*)]. The child had normal development and milestones until the age of 15m, when she demonstrated delay in speech, social interactions, poor eye contact and was later diagnosed with ASD.
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Hu et al (2019 - PMID: 29302074) provided details on a 22- and 30- y.o. female born to (reportedly) unrelated parents. Formal evaluation (WAIS-IV) suggested ID in the mild to moderate range(IQs of 50 and 60 respectively). Both were homozygous for an indel [NM_003682:c.3559del / p.(Met1187*)].
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Schneeberger et al (2020 - PMID: 32761064) report on 23 affected subjects.

The authors categorized the phenotypes in 2 groups. 9 individuals belonging to group 1 presented with hypotonia, DD (9/9) with speech impaiment, ID (5/5) and seizures (6/9). 14 patients, belonging to group 2 had DD (9/9 - severe), ID (3/3), seizures (9/14), endo- and exocrine dysfunction, impairment of sensory and autonomic nervous system, haematological anomalies. The course was fatal in some cases, within the later group. Some facial features appeared to be more frequent (e.g. full cheeks, small mouth, tented upper lip - small palpebral fissures in some, etc). Genital anomalies were also common in males from both groups.

All were found to harbor biallelic MADD variants (21 different - missense and pLoF SNVs as well as an intragenic deletion). Variants in all cases affected all 7 isoforms. Data did not allow genotype-phenotype correlations e.g. individuals with missense and a pLoF variant (in trans) were identified within either group.

Studies using patient-derived fibroblasts supported the role of the variants, e.g. lower mRNA levels for those where NMD would apply, deficiency or drastic reduction of the protein upon immunobloting (also the case for missense variants) and mRNA analyses demonstrating aberrant transcripts for 2 relevant variants.

MADD encodes the MAPK-activating protein containing a death domain implicated among others in neurotransmission (Rab3 GEF and effector playing a role in formation/trafficking of synaptic vessicles), cell survival (pro-apoptotic effects/protection against apoptosis upon TNF-a treatment), etc. The gene has relevant expression pattern in fetal and adult brain (discussed by Hu et al).

Studies in patient fibroblasts provide evidence of reduced activation of MAP kinases ERK1/2 upon treatment with TNF-a, activation of the intrinsic (TNF-a-dependent-) apoptosis. MADD deficiency was shown to result to decreased EGF endocytosis (likely mediated by Rab3).

Mouse model further supports the role of MADD (summary by MGI: "Mice homozygous for a knock-out allele die shortly after birth due to respiratory failure, are hyporesponsive to tactile stimuli, and exhibit defects in neurotransmitter release with impaired synaptic vesicle trafficking and depletion of synaptic vesicles at the neuromuscular junction.").

You may consider inclusion in other gene panels e.g. for hematologic (low Hb and thrombocytopenia in several) or GI (e.g diarrhea) disorders.
Sources: Literature
Mendeliome v0.3740 UNC45A Zornitza Stark Marked gene: UNC45A as ready
Mendeliome v0.3740 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Mendeliome v0.3740 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Mendeliome v0.3739 UNC45A Zornitza Stark Publications for gene: UNC45A were set to
Mendeliome v0.3738 UNC45A Zornitza Stark Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3737 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.6 UNC45A Zornitza Stark Marked gene: UNC45A as ready
Congenital Diarrhoea v0.6 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.6 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Congenital Diarrhoea v0.5 UNC45A Zornitza Stark Publications for gene: UNC45A were set to
Congenital Diarrhoea v0.4 UNC45A Zornitza Stark Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.3 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.176 UNC45A Zornitza Stark Marked gene: UNC45A as ready
Cholestasis v0.176 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Cholestasis v0.176 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Cholestasis v0.175 UNC45A Zornitza Stark Publications for gene: UNC45A were set to
Cholestasis v0.174 UNC45A Zornitza Stark Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.173 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.173 TRMU Zornitza Stark Marked gene: TRMU as ready
Cholestasis v0.173 TRMU Zornitza Stark Gene: trmu has been classified as Amber List (Moderate Evidence).
Cholestasis v0.173 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070
Cholestasis v0.172 TRMU Zornitza Stark Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.171 TRMU Zornitza Stark Classified gene: TRMU as Amber List (moderate evidence)
Cholestasis v0.171 TRMU Zornitza Stark Gene: trmu has been classified as Amber List (Moderate Evidence).
Cholestasis v0.170 TRMU Zornitza Stark reviewed gene: TRMU: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Liver failure, transient infantile, MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.170 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Cholestasis v0.170 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Cholestasis v0.170 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Meckel syndrome 2, MIM# 603194
Cholestasis v0.169 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.168 TMEM216 Zornitza Stark Classified gene: TMEM216 as Red List (low evidence)
Cholestasis v0.168 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Cholestasis v0.167 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.167 TFR2 Zornitza Stark Classified gene: TFR2 as Red List (low evidence)
Cholestasis v0.167 TFR2 Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence).
Cholestasis v0.166 TFR2 Zornitza Stark changed review comment from: Multiple families reported.; to: Multiple families reported but cirrhosis rather than cholestasis.
Cholestasis v0.166 TFR2 Zornitza Stark edited their review of gene: TFR2: Changed rating: RED
Cholestasis v0.166 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Cholestasis v0.166 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Red List (Low Evidence).
Cholestasis v0.166 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease
Cholestasis v0.165 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.164 SMPD1 Zornitza Stark Classified gene: SMPD1 as Red List (low evidence)
Cholestasis v0.164 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Red List (Low Evidence).
Cholestasis v0.163 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.163 SLC40A1 Zornitza Stark Marked gene: SLC40A1 as ready
Cholestasis v0.163 SLC40A1 Zornitza Stark Gene: slc40a1 has been classified as Red List (Low Evidence).
Cholestasis v0.163 SLC40A1 Zornitza Stark Phenotypes for gene: SLC40A1 were changed from to Hemochromatosis, type 4, MIM# 606069
Cholestasis v0.162 SLC40A1 Zornitza Stark Mode of inheritance for gene: SLC40A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.161 SLC40A1 Zornitza Stark Classified gene: SLC40A1 as Red List (low evidence)
Cholestasis v0.161 SLC40A1 Zornitza Stark Gene: slc40a1 has been classified as Red List (Low Evidence).
Cholestasis v0.160 SLC40A1 Zornitza Stark reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 4, MIM# 606069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.160 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Cholestasis v0.160 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Red List (Low Evidence).
Cholestasis v0.160 SLC30A10 Zornitza Stark Phenotypes for gene: SLC30A10 were changed from to Hypermanganesemia with dystonia 1, MIM# 613280
Cholestasis v0.159 SLC30A10 Zornitza Stark Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.158 SLC30A10 Zornitza Stark Classified gene: SLC30A10 as Red List (low evidence)
Cholestasis v0.158 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Red List (Low Evidence).
Cholestasis v0.157 SLC30A10 Zornitza Stark reviewed gene: SLC30A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermanganesemia with dystonia 1, MIM# 613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.157 POLG Zornitza Stark Marked gene: POLG as ready
Cholestasis v0.157 POLG Zornitza Stark Gene: polg has been classified as Red List (Low Evidence).
Cholestasis v0.157 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
Cholestasis v0.156 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.155 POLG Zornitza Stark Classified gene: POLG as Red List (low evidence)
Cholestasis v0.155 POLG Zornitza Stark Gene: polg has been classified as Red List (Low Evidence).
Cholestasis v0.154 POLG Zornitza Stark reviewed gene: POLG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.154 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Cholestasis v0.154 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Cholestasis v0.154 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Cholestasis v0.153 PKHD1 Zornitza Stark Publications for gene: PKHD1 were set to
Cholestasis v0.152 PKHD1 Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.151 PKHD1 Zornitza Stark reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30366773, 25771912, 8616994; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.151 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Cholestasis v0.151 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Cholestasis v0.151 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110
Cholestasis v0.150 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.150 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.149 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
Cholestasis v0.149 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Cholestasis v0.148 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.148 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Cholestasis v0.148 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Cholestasis v0.148 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882
Cholestasis v0.147 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.146 PEX5 Zornitza Stark Classified gene: PEX5 as Red List (low evidence)
Cholestasis v0.146 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Cholestasis v0.145 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.145 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Cholestasis v0.145 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Cholestasis v0.145 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886
Cholestasis v0.144 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.143 PEX3 Zornitza Stark Classified gene: PEX3 as Red List (low evidence)
Cholestasis v0.143 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Cholestasis v0.142 PEX3 Zornitza Stark reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.142 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Cholestasis v0.142 PEX19 Zornitza Stark Gene: pex19 has been classified as Red List (Low Evidence).
Cholestasis v0.142 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876
Cholestasis v0.141 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Cholestasis v0.140 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.139 PEX19 Zornitza Stark Classified gene: PEX19 as Red List (low evidence)
Cholestasis v0.139 PEX19 Zornitza Stark Gene: pex19 has been classified as Red List (Low Evidence).
Cholestasis v0.138 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: RED; Mode of pathogenicity: None; Publications: 20683989; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.138 PEX16 Zornitza Stark Classified gene: PEX16 as Red List (low evidence)
Cholestasis v0.138 PEX16 Zornitza Stark Gene: pex16 has been classified as Red List (Low Evidence).
Cholestasis v0.137 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Cholestasis v0.137 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Cholestasis v0.137 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Cholestasis v0.136 PEX16 Zornitza Stark Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.135 PEX16 Zornitza Stark reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.135 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Cholestasis v0.135 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.135 PEX14 Zornitza Stark Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Cholestasis v0.134 PEX14 Zornitza Stark Publications for gene: PEX14 were set to
Cholestasis v0.133 PEX14 Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.132 PEX14 Zornitza Stark Classified gene: PEX14 as Amber List (moderate evidence)
Cholestasis v0.132 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.131 PEX14 Zornitza Stark reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 21686775, 18285423; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.131 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Cholestasis v0.131 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Cholestasis v0.131 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from to Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883
Cholestasis v0.130 PEX13 Zornitza Stark Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.129 PEX13 Zornitza Stark Classified gene: PEX13 as Red List (low evidence)
Cholestasis v0.129 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Cholestasis v0.128 PEX13 Zornitza Stark reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.128 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Cholestasis v0.128 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Cholestasis v0.128 PEX11B Zornitza Stark Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B, MIM# 614920
Cholestasis v0.127 PEX11B Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.126 PEX11B Zornitza Stark Classified gene: PEX11B as Red List (low evidence)
Cholestasis v0.126 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Cholestasis v0.125 PEX11B Zornitza Stark reviewed gene: PEX11B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 14B, MIM# 614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Melanoma v0.1 Zornitza Stark Panel types changed to Cancer Germline; SA Pathology
Medulloblastoma v0.1 Zornitza Stark Panel types changed to Cancer Germline; SA Pathology
Medulloblastoma v0.0 PHOX2B Zornitza Stark gene: PHOX2B was added
gene: PHOX2B was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 ALK Zornitza Stark gene: ALK was added
gene: ALK was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 SUFU Zornitza Stark gene: SUFU was added
gene: SUFU was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 APC Zornitza Stark gene: APC was added
gene: APC was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Melanoma v0.0 CDKN2A Zornitza Stark gene: CDKN2A was added
gene: CDKN2A was added to Melanoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Melanoma v0.0 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Melanoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDK4 were set to Melanoma, cutaneous malignant, MIM#609408
Melanoma v0.0 BAP1 Zornitza Stark gene: BAP1 was added
gene: BAP1 was added to Melanoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAP1 were set to Tumour predisposition syndrome, MIM#614327
Medulloblastoma v0.0 Zornitza Stark Added panel Medulloblastoma
Melanoma v0.0 Zornitza Stark Added panel Melanoma
Intellectual disability syndromic and non-syndromic v0.2835 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Regression v0.130 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Regression v0.129 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed phenotypes: Developmental delay, epilepsy, neurodegeneration, Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Genetic Epilepsy v0.774 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Mendeliome v0.3737 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Mendeliome v0.3736 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed phenotypes: Developmental delay, epilepsy, neurodegeneration, Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Polydactyly v0.170 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis; Curry-Jones syndrome, somatic mosaic 601707 to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800; Curry-Jones syndrome, somatic mosaic 601707
Polydactyly v0.169 SMO Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome, MIM# 241800, Curry-Jones syndrome, somatic mosaic 601707
Microcephaly v0.148 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800
Mendeliome v0.3736 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis; Curry-Jones syndrome, somatic mosaic 601707 to Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome, MIM# 241800; Curry-Jones syndrome, somatic mosaic 601707
Mendeliome v0.3735 SMO Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome, MIM# 241800, Curry-Jones syndrome, somatic mosaic 601707
Hirschsprung disease v0.4 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800
Hirschsprung disease v0.3 SMO Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome , MIM#241800
Craniosynostosis v0.135 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Congenital Heart Defect v0.56 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800
Congenital Heart Defect v0.55 SMO Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome , MIM#241800
Cholestasis v0.125 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Cholestasis v0.125 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Cholestasis v0.125 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870
Cholestasis v0.124 PEX10 Zornitza Stark Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.123 PEX10 Zornitza Stark Classified gene: PEX10 as Red List (low evidence)
Cholestasis v0.123 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Cholestasis v0.122 PEX10 Zornitza Stark reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.122 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Cholestasis v0.122 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Cholestasis v0.122 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Cholestasis v0.121 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.120 NPHP4 Zornitza Stark Classified gene: NPHP4 as Red List (low evidence)
Cholestasis v0.120 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Cholestasis v0.119 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.119 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Cholestasis v0.119 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Cholestasis v0.119 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Cholestasis v0.118 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Cholestasis v0.117 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.116 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18371931, 20007846, 32341812; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.116 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Cholestasis v0.116 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Cholestasis v0.116 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4 609583; Nephronophthisis 1, juvenile ,MIM# 256100; Senior-Loken syndrome-1 , MIM#266900
Cholestasis v0.115 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.114 NPHP1 Zornitza Stark Classified gene: NPHP1 as Red List (low evidence)
Cholestasis v0.114 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Cholestasis v0.113 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4 609583, Nephronophthisis 1, juvenile ,MIM# 256100, Senior-Loken syndrome-1 , MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.113 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Cholestasis v0.113 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Cholestasis v0.113 MYO5B Zornitza Stark Classified gene: MYO5B as Green List (high evidence)
Cholestasis v0.113 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Cholestasis v0.112 MYO5B Zornitza Stark gene: MYO5B was added
gene: MYO5B was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO5B were set to 28027573; 27532546
Phenotypes for gene: MYO5B were set to Cholestasis; Microvillus inclusion disease, MIM#251850
Review for gene: MYO5B was set to GREEN
Added comment: Cholestasis has been reported in association with microvillus inclusion disease, but PMID: 28027573 and PMID: 27532546 also report cholestasis with normal or low γ‐glutamyltransferase activity, without diarrhoea, in a total of 13 unrelated individuals with biallelic variants in MYO5B. The youngest proband presented at 2 days of age, although in most cases the onset of symptoms was at more than one month of age.
Sources: Expert list
Cholestasis v0.111 MVK Zornitza Stark Marked gene: MVK as ready
Cholestasis v0.111 MVK Zornitza Stark Gene: mvk has been classified as Red List (Low Evidence).
Cholestasis v0.111 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Mevalonic aciduria, MIM# 610377
Cholestasis v0.110 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.109 MVK Zornitza Stark Classified gene: MVK as Red List (low evidence)
Cholestasis v0.109 MVK Zornitza Stark Gene: mvk has been classified as Red List (Low Evidence).
Cholestasis v0.108 MVK Zornitza Stark reviewed gene: MVK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.108 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Cholestasis v0.108 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Cholestasis v0.108 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Cholestasis v0.107 MPV17 Zornitza Stark Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.106 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.106 MPI Zornitza Stark Marked gene: MPI as ready
Cholestasis v0.106 MPI Zornitza Stark Gene: mpi has been classified as Amber List (Moderate Evidence).
Cholestasis v0.106 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579
Cholestasis v0.105 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.104 MPI Zornitza Stark Classified gene: MPI as Amber List (moderate evidence)
Cholestasis v0.104 MPI Zornitza Stark Gene: mpi has been classified as Amber List (Moderate Evidence).
Cholestasis v0.103 MPI Zornitza Stark reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.103 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Cholestasis v0.103 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Cholestasis v0.103 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Meckel syndrome 1, MIM# 249000
Cholestasis v0.102 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.101 MKS1 Zornitza Stark Classified gene: MKS1 as Red List (low evidence)
Cholestasis v0.101 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Cholestasis v0.100 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 1, MIM# 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.100 LIPA Zornitza Stark Marked gene: LIPA as ready
Cholestasis v0.100 LIPA Zornitza Stark Gene: lipa has been classified as Amber List (Moderate Evidence).
Cholestasis v0.100 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000
Cholestasis v0.99 LIPA Zornitza Stark Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.98 LIPA Zornitza Stark Classified gene: LIPA as Amber List (moderate evidence)
Cholestasis v0.98 LIPA Zornitza Stark Gene: lipa has been classified as Amber List (Moderate Evidence).
Cholestasis v0.97 LIPA Zornitza Stark reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.97 LARS Zornitza Stark Classified gene: LARS as Amber List (moderate evidence)
Cholestasis v0.97 LARS Zornitza Stark Gene: lars has been classified as Amber List (Moderate Evidence).
Cholestasis v0.96 LARS Zornitza Stark changed review comment from: Six unrelated families reported in the literature, reviewed in PMID: 30349989.; to: Six unrelated families reported in the literature, reviewed in PMID: 30349989. However, presenting phenotype is that of liver failure rather than cholestasis.
Cholestasis v0.96 LARS Zornitza Stark edited their review of gene: LARS: Changed rating: AMBER
Cholestasis v0.96 INVS Zornitza Stark Marked gene: INVS as ready
Cholestasis v0.96 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Cholestasis v0.96 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, MIM# 602088
Cholestasis v0.95 INVS Zornitza Stark Publications for gene: INVS were set to
Cholestasis v0.94 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.93 INVS Zornitza Stark Classified gene: INVS as Red List (low evidence)
Cholestasis v0.93 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Cholestasis v0.92 INVS Zornitza Stark reviewed gene: INVS: Rating: RED; Mode of pathogenicity: None; Publications: 10421642; Phenotypes: Nephronophthisis 2, infantile, MIM# 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.92 IARS Zornitza Stark Tag new gene name tag was added to gene: IARS.
Cholestasis v0.92 IARS Zornitza Stark Publications for gene: IARS were set to 27426735
Cholestasis v0.91 IARS Zornitza Stark Classified gene: IARS as Amber List (moderate evidence)
Cholestasis v0.91 IARS Zornitza Stark Gene: iars has been classified as Amber List (Moderate Evidence).
Cholestasis v0.90 IARS Zornitza Stark reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 27426735, 27891590; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.90 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Cholestasis v0.90 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Cholestasis v0.90 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920
Cholestasis v0.89 HNF1B Zornitza Stark Publications for gene: HNF1B were set to
Cholestasis v0.88 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.87 HNF1B Zornitza Stark reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324003, 29727438, 30791938, 25741167; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3735 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Mendeliome v0.3735 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Mendeliome v0.3735 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Mendeliome v0.3735 HFE2 Zornitza Stark Phenotypes for gene: HFE2 were changed from to Hemochromatosis, type 2A, MIM# 602390
Mendeliome v0.3734 HFE2 Zornitza Stark Mode of inheritance for gene: HFE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3733 HFE2 Zornitza Stark reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, MIM# 602390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is HJV.
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is HJV.
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Cholestasis v0.87 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Cholestasis v0.87 HFE2 Zornitza Stark Gene: hfe2 has been classified as Red List (Low Evidence).
Cholestasis v0.87 HFE2 Zornitza Stark Phenotypes for gene: HFE2 were changed from to Hemochromatosis, type 2A, MIM# 602390
Cholestasis v0.86 HFE2 Zornitza Stark Mode of inheritance for gene: HFE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.85 HFE2 Zornitza Stark Classified gene: HFE2 as Red List (low evidence)
Cholestasis v0.85 HFE2 Zornitza Stark Gene: hfe2 has been classified as Red List (Low Evidence).
Cholestasis v0.84 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Cholestasis v0.84 HFE2 Zornitza Stark reviewed gene: HFE2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, MIM# 602390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.84 HFE Zornitza Stark Marked gene: HFE as ready
Cholestasis v0.84 HFE Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence).
Cholestasis v0.84 HFE Zornitza Stark Phenotypes for gene: HFE were changed from to Hemochromatosis, MIM# 235200
Cholestasis v0.83 HFE Zornitza Stark Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.82 HFE Zornitza Stark Classified gene: HFE as Red List (low evidence)
Cholestasis v0.82 HFE Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence).
Cholestasis v0.81 HFE Zornitza Stark reviewed gene: HFE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.81 HAMP Zornitza Stark Marked gene: HAMP as ready
Cholestasis v0.81 HAMP Zornitza Stark Gene: hamp has been classified as Red List (Low Evidence).
Cholestasis v0.81 HAMP Zornitza Stark Phenotypes for gene: HAMP were changed from to Hemochromatosis, type 2B, MIM# 613313
Cholestasis v0.80 HAMP Zornitza Stark Publications for gene: HAMP were set to
Cholestasis v0.79 HAMP Zornitza Stark Mode of inheritance for gene: HAMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.78 HAMP Zornitza Stark Classified gene: HAMP as Red List (low evidence)
Cholestasis v0.78 HAMP Zornitza Stark Gene: hamp has been classified as Red List (Low Evidence).
Cholestasis v0.77 HAMP Zornitza Stark reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: None; Publications: 12469120; Phenotypes: Hemochromatosis, type 2B, MIM# 613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.77 HADHA Zornitza Stark Marked gene: HADHA as ready
Cholestasis v0.77 HADHA Zornitza Stark Gene: hadha has been classified as Red List (Low Evidence).
Cholestasis v0.77 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016; Mitochondrial trifunctional protein deficiency, MIM# 609015
Cholestasis v0.76 HADHA Zornitza Stark Publications for gene: HADHA were set to
Cholestasis v0.75 HADHA Zornitza Stark Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.74 HADHA Zornitza Stark Classified gene: HADHA as Red List (low evidence)
Cholestasis v0.74 HADHA Zornitza Stark Gene: hadha has been classified as Red List (Low Evidence).
Cholestasis v0.73 HADHA Zornitza Stark reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: None; Publications: 9003853; Phenotypes: LCHAD deficiency, MIM# 609016, Mitochondrial trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3733 FAM50A Zornitza Stark Marked gene: FAM50A as ready
Mendeliome v0.3733 FAM50A Zornitza Stark Gene: fam50a has been classified as Green List (High Evidence).
Mendeliome v0.3733 FAM50A Zornitza Stark Classified gene: FAM50A as Green List (high evidence)
Mendeliome v0.3733 FAM50A Zornitza Stark Gene: fam50a has been classified as Green List (High Evidence).
Mendeliome v0.3732 FAM50A Zornitza Stark gene: FAM50A was added
gene: FAM50A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM50A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FAM50A were set to 32703943
Phenotypes for gene: FAM50A were set to Mental retardation syndrome, X-linked, Armfield type (MIM #300261)
Review for gene: FAM50A was set to GREEN
Added comment: Lee et al (2020 - PMID: 32703943) provide evidence that Armfield X-Linked intellectual disability syndrome is caused by monoallelic FAM50A pathogenic variants. The current review is based only on this reference. The authors provide clinical details on 6 affected individuals from 5 families. Features included postnatal growth delay, DD and ID (6/6 - also evident for those without formal IQ assesment), seizures (3/6 from 2 families), prominent forehead with presence of other facial features and variable head circumference (5th to >97th %le), ocular anomalies (5/6 - strabismus/nystagmus/Axenfeld-Rieger), cardiac (3/6 - ASD/Fallot) and genitourinary anomalies (3/6). In the first of these families (Armfield et al 1999 - PMID: 10398235), linkage analysis followed by additional studies (Sanger, NGS of 718 genes on chrX, X-exome NGS - several refs provided) allowed the identification of a FAM50A variant. Variants in other families were identified by singleton (1 fam) or trio-ES (3 fam). In affected individuals from 3 families, the variant had occurred de novo. Carrier females in the other families were unaffected (based on pedigrees and/or the original publication). XCI was rather biased in most obligate carrier females from the 1st family (although this ranged from 95:5 to 60:40). Missense variants were reported in all affected subjects incl. Trp206Gly, Asp255Gly, Asp255Asn (dn), Glu254Gly (dn), Arg273Trp (dn) (NM_004699.3). Previous studies have demonstrated that FAM50A has ubiquitous expression in human fetal and adult tissues (incl. brain in fetal ones). Immunostaining suggests a nuclear localization for the protein (NIH/3T3 cells). Comparison of protein levels in LCLs from affected males and controls did not demonstrate significant differences. Protein localization for 3 variants (transfection of COS-7 cells) was shown to be similar to wt. Complementation studies in zebrafish provided evidence that the identified variants confer partial loss of function (rescue of the morpholino phenotype with co-injection of wt but not mt mRNA). The zebrafish ko model seemed to recapitulate the abnormal development of cephalic structures and was indicative of diminished/defective neurogenesis. Transcriptional dysregulation was demonstrated in zebrafish (altered levels and mis-splicing). Upregulation of spliceosome effectors was demonstrated in ko zebrafish. Similarly, mRNA expression and splicing defects were demonstrated in LCLs from affected individuals. FAM50A pulldown followed by mass spectrometry in transfected HEK293T cells demonstrated enrichment of binding proteins involved in RNA processing and co-immunoprecipitation assays (transfected U-87 cells) suggested that FAM50A interacts with spliceosome U5 and C-complex proteins. Overall aberrant spliceosome C-complex function is suggested as the underlying pathogenetic mechanism. Several other neurodevelopmental syndromes are caused by variants in genes encoding C-complex affiliated proteins (incl. EFTUD2, EIF4A3, THOC2, etc.).
Sources: Literature
Genetic Epilepsy v0.773 FAM50A Zornitza Stark Marked gene: FAM50A as ready
Genetic Epilepsy v0.773 FAM50A Zornitza Stark Gene: fam50a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.773 FAM50A Zornitza Stark Classified gene: FAM50A as Amber List (moderate evidence)
Genetic Epilepsy v0.773 FAM50A Zornitza Stark Gene: fam50a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2834 FAM50A Zornitza Stark Marked gene: FAM50A as ready
Intellectual disability syndromic and non-syndromic v0.2834 FAM50A Zornitza Stark Gene: fam50a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2834 FAM50A Zornitza Stark Classified gene: FAM50A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2834 FAM50A Zornitza Stark Gene: fam50a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.772 FAM50A Konstantinos Varvagiannis gene: FAM50A was added
gene: FAM50A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FAM50A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FAM50A were set to 32703943
Phenotypes for gene: FAM50A were set to Mental retardation syndrome, X-linked, Armfield type (MIM #300261)
Penetrance for gene: FAM50A were set to unknown
Review for gene: FAM50A was set to AMBER
Added comment: Lee et al (2020 - PMID: 32703943) provide evidence that Armfield X-Linked intellectual disability syndrome is caused by monoallelic FAM50A pathogenic variants. The current review is based only on this reference.

The authors provide clinical details on 6 affected individuals from 5 families.

Features included postnatal growth delay, DD and ID (6/6 - also evident for those without formal IQ assesment), seizures (3/6 from 2 families), prominent forehead with presence of other facial features and variable head circumference (5th to >97th %le), ocular anomalies (5/6 - strabismus/nystagmus/Axenfeld-Rieger), cardiac (3/6 - ASD/Fallot) and genitourinary anomalies (3/6).

In the first of these families (Armfield et al 1999 - PMID: 10398235), linkage analysis followed by additional studies (Sanger, NGS of 718 genes on chrX, X-exome NGS - several refs provided) allowed the identification of a FAM50A variant. Variants in other families were identified by singleton (1 fam) or trio-ES (3 fam).

In affected individuals from 3 families, the variant had occurred de novo. Carrier females in the other families were unaffected (based on pedigrees and/or the original publication). XCI was rather biased in most obligate carrier females from the 1st family (although this ranged from 95:5 to 60:40).

Missense variants were reported in all affected subjects incl. Trp206Gly, Asp255Gly, Asp255Asn (dn), Glu254Gly (dn), Arg273Trp (dn) (NM_004699.3).

Previous studies have demonstrated that FAM50A has ubiquitous expression in human fetal and adult tissues (incl. brain in fetal ones).

Immunostaining suggests a nuclear localization for the protein (NIH/3T3 cells). Comparison of protein levels in LCLs from affected males and controls did not demonstrate significant differences. Protein localization for 3 variants (transfection of COS-7 cells) was shown to be similar to wt.

Complementation studies in zebrafish provided evidence that the identified variants confer partial loss of function (rescue of the morpholino phenotype with co-injection of wt but not mt mRNA). The zebrafish ko model seemed to recapitulate the abnormal development of cephalic structures and was indicative of diminished/defective neurogenesis. Transcriptional dysregulation was demonstrated in zebrafish (altered levels and mis-splicing). Upregulation of spliceosome effectors was demonstrated in ko zebrafish.

Similarly, mRNA expression and splicing defects were demonstrated in LCLs from affected individuals. FAM50A pulldown followed by mass spectrometry in transfected HEK293T cells demonstrated enrichment of binding proteins involved in RNA processing and co-immunoprecipitation assays (transfected U-87 cells) suggested that FAM50A interacts with spliceosome U5 and C-complex proteins.

Overall aberrant spliceosome C-complex function is suggested as the underlying pathogenetic mechanism.

Several other neurodevelopmental syndromes are caused by variants in genes encoding C-complex affiliated proteins (incl. EFTUD2, EIF4A3, THOC2, etc.).

Please consider inclusion in the ID panel with green rating and epilepsy panel with amber (seizures in individuals from 2 families).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2833 FAM50A Konstantinos Varvagiannis gene: FAM50A was added
gene: FAM50A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FAM50A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FAM50A were set to 32703943
Phenotypes for gene: FAM50A were set to Mental retardation syndrome, X-linked, Armfield type (MIM #300261)
Penetrance for gene: FAM50A were set to unknown
Review for gene: FAM50A was set to GREEN
Added comment: Lee et al (2020 - PMID: 32703943) provide evidence that Armfield X-Linked intellectual disability syndrome is caused by monoallelic FAM50A pathogenic variants. The current review is based only on this reference.

The authors provide clinical details on 6 affected individuals from 5 families.

Features included postnatal growth delay, DD and ID (6/6 - also evident for those without formal IQ assesment), seizures (3/6 from 2 families), prominent forehead with presence of other facial features and variable head circumference (5th to >97th %le), ocular anomalies (5/6 - strabismus/nystagmus/Axenfeld-Rieger), cardiac (3/6 - ASD/Fallot) and genitourinary anomalies (3/6).

In the first of these families (Armfield et al 1999 - PMID: 10398235), linkage analysis followed by additional studies (Sanger, NGS of 718 genes on chrX, X-exome NGS - several refs provided) allowed the identification of a FAM50A variant. Variants in other families were identified by singleton (1 fam) or trio-ES (3 fam).

In affected individuals from 3 families, the variant had occurred de novo. Carrier females in the other families were unaffected (based on pedigrees and/or the original publication). XCI was rather biased in most obligate carrier females from the 1st family (although this ranged from 95:5 to 60:40).

Missense variants were reported in all affected subjects incl. Trp206Gly, Asp255Gly, Asp255Asn (dn), Glu254Gly (dn), Arg273Trp (dn) (NM_004699.3).

Previous studies have demonstrated that FAM50A has ubiquitous expression in human fetal and adult tissues (incl. brain in fetal ones).

Immunostaining suggests a nuclear localization for the protein (NIH/3T3 cells). Comparison of protein levels in LCLs from affected males and controls did not demonstrate significant differences. Protein localization for 3 variants (transfection of COS-7 cells) was shown to be similar to wt.

Complementation studies in zebrafish provided evidence that the identified variants confer partial loss of function (rescue of the morpholino phenotype with co-injection of wt but not mt mRNA). The zebrafish ko model seemed to recapitulate the abnormal development of cephalic structures and was indicative of diminished/defective neurogenesis. Transcriptional dysregulation was demonstrated in zebrafish (altered levels and mis-splicing). Upregulation of spliceosome effectors was demonstrated in ko zebrafish.

Similarly, mRNA expression and splicing defects were demonstrated in LCLs from affected individuals. FAM50A pulldown followed by mass spectrometry in transfected HEK293T cells demonstrated enrichment of binding proteins involved in RNA processing and co-immunoprecipitation assays (transfected U-87 cells) suggested that FAM50A interacts with spliceosome U5 and C-complex proteins.

Overall aberrant spliceosome C-complex function is suggested as the underlying pathogenetic mechanism.

Several other neurodevelopmental syndromes are caused by variants in genes encoding C-complex affiliated proteins (incl. EFTUD2, EIF4A3, THOC2, etc.).

Please consider inclusion in the ID panel with green rating and epilepsy panel with amber (seizures in individuals from 2 families).
Sources: Literature
Cholestasis v0.73 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Cholestasis v0.73 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Cholestasis v0.73 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500
Cholestasis v0.72 GBE1 Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.71 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM# 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.71 GBA Zornitza Stark Marked gene: GBA as ready
Cholestasis v0.71 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Cholestasis v0.71 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease
Cholestasis v0.70 GBA Zornitza Stark Publications for gene: GBA were set to
Cholestasis v0.69 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.68 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32324335; Phenotypes: Gaucher disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.68 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.67 GALT Zornitza Stark Phenotypes for gene: GALT were changed from to Galactosemia, MIM# 230400
Cholestasis v0.66 GALT Zornitza Stark Publications for gene: GALT were set to
Cholestasis v0.66 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.65 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30693370; Phenotypes: Galactosemia, MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.65 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Cholestasis v0.65 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.65 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM# 270400
Cholestasis v0.64 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Cholestasis v0.63 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.62 DHCR7 Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence)
Cholestasis v0.62 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.61 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: 20052364; Phenotypes: Smith-Lemli-Opitz syndrome, MIM# 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.61 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Cholestasis v0.61 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Cholestasis v0.61 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Cholestasis v0.60 DGUOK Zornitza Stark Mode of inheritance for gene: DGUOK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.59 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.59 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Cholestasis v0.59 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Cholestasis v0.59 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from to Bile acid synthesis defect, congenital, 3, MIM# 613812
Cholestasis v0.58 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Cholestasis v0.57 CYP7B1 Zornitza Stark Mode of inheritance for gene: CYP7B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.56 CYP7B1 Zornitza Stark reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337596, 30366773, 9802883; Phenotypes: Bile acid synthesis defect, congenital, 3, MIM# 613812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.56 COG7 Zornitza Stark Marked gene: COG7 as ready
Cholestasis v0.56 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Cholestasis v0.56 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Cholestasis v0.55 COG7 Zornitza Stark Publications for gene: COG7 were set to
Cholestasis v0.54 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.53 COG7 Zornitza Stark reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19577670, 17395513, 15107842; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.53 CFTR Zornitza Stark Marked gene: CFTR as ready
Cholestasis v0.53 CFTR Zornitza Stark Gene: cftr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.53 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700
Cholestasis v0.52 CFTR Zornitza Stark Publications for gene: CFTR were set to
Cholestasis v0.51 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.50 CFTR Zornitza Stark Classified gene: CFTR as Amber List (moderate evidence)
Cholestasis v0.50 CFTR Zornitza Stark Gene: cftr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.49 CFTR Zornitza Stark reviewed gene: CFTR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25097709; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.49 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Cholestasis v0.49 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Cholestasis v0.49 BCS1L Zornitza Stark Classified gene: BCS1L as Green List (high evidence)
Cholestasis v0.49 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Cholestasis v0.48 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 12215968
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: Founder Finnish variant: p.Ser78Gly is linked to this particular phenotype. Other variants in this gene tend to cause a mitochondrial disorder where cholestasis is also a feature.
Sources: Expert list
Cholestasis v0.47 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Cholestasis v0.47 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Cholestasis v0.47 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Cholestasis v0.46 ATP7B Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.45 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.45 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Cholestasis v0.45 ARG1 Zornitza Stark Gene: arg1 has been classified as Red List (Low Evidence).
Cholestasis v0.45 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininemia, MIM# 207800
Cholestasis v0.44 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.44 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.44 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.43 ARG1 Zornitza Stark Classified gene: ARG1 as Red List (low evidence)
Cholestasis v0.43 ARG1 Zornitza Stark Gene: arg1 has been classified as Red List (Low Evidence).
Cholestasis v0.42 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininemia, MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2833 ADK Zornitza Stark Marked gene: ADK as ready
Intellectual disability syndromic and non-syndromic v0.2833 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2833 ADK Zornitza Stark Phenotypes for gene: ADK were changed from to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Intellectual disability syndromic and non-syndromic v0.2832 ADK Zornitza Stark Publications for gene: ADK were set to
Intellectual disability syndromic and non-syndromic v0.2831 ADK Zornitza Stark Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2830 ADK Zornitza Stark reviewed gene: ADK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3731 ADK Zornitza Stark Marked gene: ADK as ready
Mendeliome v0.3731 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Mendeliome v0.3731 ADK Zornitza Stark Phenotypes for gene: ADK were changed from to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Mendeliome v0.3730 ADK Zornitza Stark Publications for gene: ADK were set to
Mendeliome v0.3729 ADK Zornitza Stark Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3728 ADK Zornitza Stark reviewed gene: ADK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.42 ADK Zornitza Stark Marked gene: ADK as ready
Cholestasis v0.42 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Cholestasis v0.42 ADK Zornitza Stark Phenotypes for gene: ADK were changed from to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Cholestasis v0.41 ADK Zornitza Stark Publications for gene: ADK were set to
Cholestasis v0.40 ADK Zornitza Stark Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.39 ADK Zornitza Stark Classified gene: ADK as Red List (low evidence)
Cholestasis v0.39 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Cholestasis v0.38 ADK Zornitza Stark reviewed gene: ADK: Rating: RED; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.38 ABCG8 Zornitza Stark Marked gene: ABCG8 as ready
Cholestasis v0.38 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Red List (Low Evidence).
Cholestasis v0.38 ABCG8 Zornitza Stark Phenotypes for gene: ABCG8 were changed from to Sitosterolemia 1, MIM# 210250
Cholestasis v0.37 ABCG8 Zornitza Stark Publications for gene: ABCG8 were set to
Cholestasis v0.36 ABCG8 Zornitza Stark Mode of inheritance for gene: ABCG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.35 ABCG8 Zornitza Stark Classified gene: ABCG8 as Red List (low evidence)
Cholestasis v0.35 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Red List (Low Evidence).
Cholestasis v0.34 ABCG8 Zornitza Stark reviewed gene: ABCG8: Rating: RED; Mode of pathogenicity: None; Publications: 18441155; Phenotypes: Sitosterolemia 1, MIM# 210250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.34 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Cholestasis v0.34 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Cholestasis v0.34 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from to Sitosterolemia 2, MIM# 618666
Cholestasis v0.33 ABCG5 Zornitza Stark Publications for gene: ABCG5 were set to
Cholestasis v0.32 ABCG5 Zornitza Stark Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.31 ABCG5 Zornitza Stark Classified gene: ABCG5 as Red List (low evidence)
Cholestasis v0.31 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Cholestasis v0.30 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: 18441155; Phenotypes: Sitosterolemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.49 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.3728 SGK3 Zornitza Stark gene: SGK3 was added
gene: SGK3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SGK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGK3 were set to 31821448
Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets
Review for gene: SGK3 was set to RED
Added comment: 5 individuals from one family where a splice site variant segregated with disease.
Sources: Literature
Hydrocephalus_Ventriculomegaly v0.48 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Hydrocephalus_Ventriculomegaly v0.48 WDR81 Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.48 WDR81 Zornitza Stark Classified gene: WDR81 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.48 WDR81 Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.47 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from Hydrcephalus to Hydrocephalus
Hydrocephalus_Ventriculomegaly v0.47 WDR81 Zornitza Stark Classified gene: WDR81 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.47 WDR81 Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.46 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to 28556411
Phenotypes for gene: WDR81 were set to Hydrcephalus
Review for gene: WDR81 was set to AMBER
Added comment: WDR81 variants reported in 2 families with severe congenital hydrocephalus (PMID 28556411):
Family 13 is a consanguineous couple who lost 2 pregnancies with severe hydrocephalus and cerebellar hypoplasia: a homozygous truncating mutation was identified in WDR81 (NM_001163809.1: c.3286C>T, p. [Gln1096*]).
Family 26 consists of a consanguineous couple with history of stillburth with massive hydrocephalus and absent cerebellum and a male neonate with severe hydrocephalus and Dandy–Walker malformation. A homozygous missense variant in WDR81 was identified (NM_001163809.1:c.845G>A, p. [Gly282Glu]).
Sources: Expert list
Hydrocephalus_Ventriculomegaly v0.45 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Hydrocephalus_Ventriculomegaly v0.45 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.45 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7, MIM# 612301
Hydrocephalus_Ventriculomegaly v0.44 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.43 TNFRSF11A Zornitza Stark reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 7, MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.43 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Hydrocephalus_Ventriculomegaly v0.43 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.43 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1, MIM# 259700
Hydrocephalus_Ventriculomegaly v0.42 TCIRG1 Zornitza Stark Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.41 TCIRG1 Zornitza Stark reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3727 SEC24D Zornitza Stark Marked gene: SEC24D as ready
Mendeliome v0.3727 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Mendeliome v0.3727 SEC24D Zornitza Stark Phenotypes for gene: SEC24D were changed from to Cole-Carpenter syndrome 2, MIM# 616294
Mendeliome v0.3726 SEC24D Zornitza Stark Publications for gene: SEC24D were set to
Mendeliome v0.3725 SEC24D Zornitza Stark Mode of inheritance for gene: SEC24D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3724 SEC24D Zornitza Stark reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: 30462379, 27942778, 26467156, 25683121; Phenotypes: Cole-Carpenter syndrome 2, MIM# 616294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.46 SEC24D Zornitza Stark Marked gene: SEC24D as ready
Osteogenesis Imperfecta and Osteoporosis v0.46 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.46 SEC24D Zornitza Stark Phenotypes for gene: SEC24D were changed from to Cole-Carpenter syndrome 2, MIM# 616294
Osteogenesis Imperfecta and Osteoporosis v0.45 SEC24D Zornitza Stark Publications for gene: SEC24D were set to
Osteogenesis Imperfecta and Osteoporosis v0.44 SEC24D Zornitza Stark Mode of inheritance for gene: SEC24D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.43 SEC24D Zornitza Stark reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: 30462379, 27942778, 26467156, 25683121; Phenotypes: Cole-Carpenter syndrome 2, MIM# 616294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.41 SEC24D Zornitza Stark Marked gene: SEC24D as ready
Hydrocephalus_Ventriculomegaly v0.41 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.41 SEC24D Zornitza Stark Classified gene: SEC24D as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.41 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.40 SEC24D Zornitza Stark gene: SEC24D was added
gene: SEC24D was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24D were set to 30462379; 27942778; 26467156; 25683121
Phenotypes for gene: SEC24D were set to Cole-Carpenter syndrome 2, MIM# 616294
Review for gene: SEC24D was set to GREEN
Added comment: Five families reported, hydrocephalus is part of the phenotype.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.43 P4HB Zornitza Stark Marked gene: P4HB as ready
Osteogenesis Imperfecta and Osteoporosis v0.43 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.43 P4HB Zornitza Stark Phenotypes for gene: P4HB were changed from to Cole-Carpenter syndrome 1, MIM#112240
Craniosynostosis v0.135 P4HB Zornitza Stark Publications for gene: P4HB were set to 25683117; 29384951
Craniosynostosis v0.134 P4HB Zornitza Stark edited their review of gene: P4HB: Changed publications: 30063094, 29263160, 25683117, 29384951; Changed phenotypes: Cole-Carpenter syndrome 1, MIM# 112240
Osteogenesis Imperfecta and Osteoporosis v0.42 P4HB Zornitza Stark Publications for gene: P4HB were set to
Osteogenesis Imperfecta and Osteoporosis v0.41 P4HB Zornitza Stark Mode of inheritance for gene: P4HB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.40 P4HB Zornitza Stark reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063094, 29263160, 25683117, 29384951; Phenotypes: Cole-Carpenter syndrome 1, MIM#112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3724 P4HB Zornitza Stark Marked gene: P4HB as ready
Mendeliome v0.3724 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Mendeliome v0.3724 P4HB Zornitza Stark Phenotypes for gene: P4HB were changed from to Cole-Carpenter syndrome 1, MIM#112240
Mendeliome v0.3723 P4HB Zornitza Stark Publications for gene: P4HB were set to
Mendeliome v0.3722 P4HB Zornitza Stark Mode of inheritance for gene: P4HB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.134 P4HB Zornitza Stark changed review comment from: Craniosynostosis is a feature of this syndrome.
Sources: Expert list; to: Craniosynostosis is a feature of this syndrome. Note recurrent de novo missense variant, p.Tyr393Cys.
Sources: Expert list
Mendeliome v0.3721 P4HB Zornitza Stark reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063094, 29263160, 25683117, 29384951; Phenotypes: Cole-Carpenter syndrome 1, MIM#112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.39 P4HB Zornitza Stark Marked gene: P4HB as ready
Hydrocephalus_Ventriculomegaly v0.39 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.39 P4HB Zornitza Stark Classified gene: P4HB as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.39 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.38 P4HB Zornitza Stark gene: P4HB was added
gene: P4HB was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P4HB were set to 30063094; 29263160; 25683117; 29384951
Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240
Review for gene: P4HB was set to GREEN
Added comment: Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Hydrocephalus is part of the phenotype.
Sources: Expert list
Mendeliome v0.3721 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Mendeliome v0.3721 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Mendeliome v0.3721 MPDZ Zornitza Stark Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219
Mendeliome v0.3720 MPDZ Zornitza Stark Publications for gene: MPDZ were set to
Mendeliome v0.3719 MPDZ Zornitza Stark Mode of inheritance for gene: MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.37 MPDZ Zornitza Stark changed review comment from: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families report from different ethnic backgrounds and at least 4 different variants. Mouse model.; to: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. Mouse model.
Mendeliome v0.3718 MPDZ Zornitza Stark changed review comment from: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families report from different ethnic backgrounds and at least 4 different variants. Mouse model.; to: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. Mouse model.
Mendeliome v0.3718 MPDZ Zornitza Stark reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 23240096, 30518636, 29499638; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.37 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Hydrocephalus_Ventriculomegaly v0.37 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.37 MPDZ Zornitza Stark Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219
Hydrocephalus_Ventriculomegaly v0.36 MPDZ Zornitza Stark Publications for gene: MPDZ were set to
Hydrocephalus_Ventriculomegaly v0.35 MPDZ Zornitza Stark Mode of inheritance for gene: MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.34 MPDZ Zornitza Stark reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 23240096, 30518636, 29499638; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.34 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Hydrocephalus_Ventriculomegaly v0.34 KIF7 Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.34 KIF7 Zornitza Stark Classified gene: KIF7 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.34 KIF7 Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.33 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF7 were set to 26174511; 21552264
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, MIM# 614120; Acrocallosal syndrome
Review for gene: KIF7 was set to AMBER
Added comment: Variants in KIF7 cause ciliopathies, which range in severity of structural brain malformations with hydrolethalus at the extreme end of the spectrum (one family reported). Note another report of bi-allelic variants in an individuals with a milder phenotype, more consistent with acrocallosal syndrome, who also had hydrocephalus.
Sources: Expert list
Hydrocephalus_Ventriculomegaly v0.32 ISLR2 Zornitza Stark edited their review of gene: ISLR2: Changed rating: AMBER
Hydrocephalus_Ventriculomegaly v0.32 FMR1 Zornitza Stark Marked gene: FMR1 as ready
Hydrocephalus_Ventriculomegaly v0.32 FMR1 Zornitza Stark Gene: fmr1 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.32 FMR1 Zornitza Stark Phenotypes for gene: FMR1 were changed from to Fragile X syndrome, MIM# 300624
Hydrocephalus_Ventriculomegaly v0.31 FMR1 Zornitza Stark Mode of inheritance for gene: FMR1 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)
Hydrocephalus_Ventriculomegaly v0.30 FMR1 Zornitza Stark Classified gene: FMR1 as Red List (low evidence)
Hydrocephalus_Ventriculomegaly v0.30 FMR1 Zornitza Stark Gene: fmr1 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.29 FMR1 Zornitza Stark reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM# 300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.202 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Arthrogryposis v0.201 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Arthrogryposis v0.200 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.199 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported, arthrogryposis not a prominent feature.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.186 B3GNT2 Zornitza Stark changed review comment from: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; to: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities observed in only one of four affected sibs in the other family.
Callosome v0.186 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Callosome v0.185 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Callosome v0.184 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.183 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.46 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Lissencephaly and Band Heterotopia v0.45 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Lissencephaly and Band Heterotopia v0.44 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.43 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported. In one family, the brain phenotype was that of anencephaly, and in the second family cobblestone lishencephaly was reported.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3718 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Mendeliome v0.3717 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Mendeliome v0.3716 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3715 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Amber List (moderate evidence)
Mendeliome v0.3715 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3714 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported.; Changed rating: AMBER; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.63 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Muscular dystrophy and myopathy_Paediatric v0.62 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Muscular dystrophy and myopathy_Paediatric v0.61 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.60 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.60 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.59 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported.; Changed rating: AMBER; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.29 ARX Zornitza Stark Marked gene: ARX as ready
Hydrocephalus_Ventriculomegaly v0.29 ARX Zornitza Stark Gene: arx has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.29 ARX Zornitza Stark Phenotypes for gene: ARX were changed from to Hydranencephaly with abnormal genitalia, MIM# 300215
Hydrocephalus_Ventriculomegaly v0.28 ARX Zornitza Stark Publications for gene: ARX were set to
Hydrocephalus_Ventriculomegaly v0.27 ARX Zornitza Stark Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrocephalus_Ventriculomegaly v0.26 ARX Zornitza Stark Classified gene: ARX as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.26 ARX Zornitza Stark Gene: arx has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.25 ARX Zornitza Stark reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: None; Publications: 14722918; Phenotypes: Hydranencephaly with abnormal genitalia, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glaucoma congenital v0.47 TEK Zornitza Stark Marked gene: TEK as ready
Glaucoma congenital v0.47 TEK Zornitza Stark Gene: tek has been classified as Green List (High Evidence).
Glaucoma congenital v0.47 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Early-onset Dementia v0.56 MAPT Zornitza Stark Marked gene: MAPT as ready
Early-onset Dementia v0.56 MAPT Zornitza Stark Gene: mapt has been classified as Green List (High Evidence).
Early-onset Dementia v0.56 MAPT Zornitza Stark Phenotypes for gene: MAPT were changed from to Supranuclear palsy, progressive (MIM# 601104) AD; Supranuclear palsy, progressive atypical (MIM# 260540) AR
Early-onset Dementia v0.55 MAPT Zornitza Stark Publications for gene: MAPT were set to
Early-onset Dementia v0.54 MAPT Zornitza Stark Mode of inheritance for gene: MAPT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.53 MAPT Ain Roesley reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20838030, 11220749; Phenotypes: Supranuclear palsy, progressive (MIM# 601104) AD, Supranuclear palsy, progressive atypical (MIM# 260540) AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic Cardiomyopathy v0.36 PLN Zornitza Stark Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy
Arrhythmogenic Cardiomyopathy v0.35 PLN Ivan Macciocca reviewed gene: PLN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, dilated cardiomyopathy; Mode of inheritance: None
Mendeliome v0.3714 SOX6 Zornitza Stark Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971
Mendeliome v0.3713 SOX6 Zornitza Stark reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.134 SOX6 Zornitza Stark Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971
Craniosynostosis v0.133 SOX6 Zornitza Stark reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2830 SOX6 Zornitza Stark Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971
Intellectual disability syndromic and non-syndromic v0.2829 SOX6 Zornitza Stark edited their review of gene: SOX6: Changed rating: GREEN; Changed phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3713 HYLS1 Melanie Marty changed review comment from: A recurring homozygous missense variant p.Asp211Gly has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human and patient cells have shown mislocalisation of the protein to the nucleus (PMID: 15843405, PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774).

2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932).

No other variants have been reported as pathogenic in this gene.; to: A recurring homozygous missense variant p.Asp211Gly has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human cells have shown mislocalisation of the protein to the nucleus (PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774).

2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932).

No other variants have been reported as pathogenic in this gene.
Genetic Epilepsy v0.772 CNTN2 Zornitza Stark gene: CNTN2 was added
gene: CNTN2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CNTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN2 were set to 23518707
Phenotypes for gene: CNTN2 were set to Epilepsy
Review for gene: CNTN2 was set to RED
Added comment: Single family reported in 2013, supportive mouse model.
Sources: Literature
Mendeliome v0.3713 CNTN2 Zornitza Stark Marked gene: CNTN2 as ready
Mendeliome v0.3713 CNTN2 Zornitza Stark Gene: cntn2 has been classified as Red List (Low Evidence).
Mendeliome v0.3713 CNTN2 Zornitza Stark gene: CNTN2 was added
gene: CNTN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CNTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN2 were set to 23518707
Phenotypes for gene: CNTN2 were set to Epilepsy
Review for gene: CNTN2 was set to RED
Added comment: Single family reported in 2013, supportive mouse model.
Sources: Literature
Mendeliome v0.3712 DNAH8 Zornitza Stark Classified gene: DNAH8 as Green List (high evidence)
Mendeliome v0.3712 DNAH8 Zornitza Stark Gene: dnah8 has been classified as Green List (High Evidence).
Mendeliome v0.3711 DNAH8 Zornitza Stark edited their review of gene: DNAH8: Added comment: Four additional individuals with sperm morphological abnormalities and male infertility reported.; Changed rating: GREEN; Changed publications: 31178125, 24307375, 32619401, 32681648
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Marked gene: MRAS as ready
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Classified gene: MRAS as Green List (high evidence)
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.2 MRAS Zornitza Stark gene: MRAS was added
gene: MRAS was added to Cardiomyopathy_Paediatric. Sources: Expert list
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466
Phenotypes for gene: MRAS were set to Noonan syndrome, MIM#618499
Review for gene: MRAS was set to GREEN
Added comment: At least 6 unrelated individuals reported with NS, cardiomyopathy specifically reported
Sources: Expert list
Cardiomyopathy_Paediatric v0.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.3711 DTNA Zornitza Stark Marked gene: DTNA as ready
Mendeliome v0.3711 DTNA Zornitza Stark Gene: dtna has been classified as Red List (Low Evidence).
Mendeliome v0.3711 DTNA Zornitza Stark Phenotypes for gene: DTNA were changed from to Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169
Mendeliome v0.3710 DTNA Zornitza Stark Publications for gene: DTNA were set to
Mendeliome v0.3709 DTNA Zornitza Stark Mode of inheritance for gene: DTNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3708 DTNA Zornitza Stark Classified gene: DTNA as Red List (low evidence)
Mendeliome v0.3708 DTNA Zornitza Stark Gene: dtna has been classified as Red List (Low Evidence).
Mendeliome v0.3707 DTNA Zornitza Stark reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: None; Publications: 29118297, 11238270, 16427346; Phenotypes: Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.147 RAC1 Zornitza Stark Marked gene: RAC1 as ready
Microcephaly v0.147 RAC1 Zornitza Stark Gene: rac1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.147 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from to Mental retardation, autosomal dominant 48, MIM# 617751
Microcephaly v0.146 RAC1 Zornitza Stark Publications for gene: RAC1 were set to
Microcephaly v0.145 RAC1 Zornitza Stark Mode of inheritance for gene: RAC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2829 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Intellectual disability syndromic and non-syndromic v0.2829 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2829 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2828 HYLS1 Zornitza Stark changed review comment from: Given that generally most affected individuals die in utero or shortly after birth, this is probably not the right panel for this gene.; to: Single family reported with Joubert phenotype, generally most affected individuals with hydrolethalus die in utero or shortly after birth so would not present with ID. Note founder variant in Finnish population associated with the hydrolethalus phenotype.
Intellectual disability syndromic and non-syndromic v0.2828 HYLS1 Zornitza Stark edited their review of gene: HYLS1: Changed rating: AMBER; Changed publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932
Renal Ciliopathies and Nephronophthisis v0.110 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Renal Ciliopathies and Nephronophthisis v0.110 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.110 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680); Joubert syndrome
Renal Ciliopathies and Nephronophthisis v0.109 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Renal Ciliopathies and Nephronophthisis v0.108 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.107 HYLS1 Zornitza Stark Classified gene: HYLS1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.107 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.106 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Renal Ciliopathies and Nephronophthisis v0.106 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680), Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.28 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Skeletal Dysplasia_Fetal v0.28 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.28 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Skeletal Dysplasia_Fetal v0.27 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Skeletal Dysplasia_Fetal v0.26 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.25 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.25 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.24 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Skeletal Dysplasia_Fetal v0.24 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.183 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Callosome v0.183 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Callosome v0.183 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Callosome v0.182 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Callosome v0.181 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.180 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Callosome v0.180 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Callosome v0.179 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.169 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Polydactyly v0.169 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Polydactyly v0.169 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Polydactyly v0.168 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Polydactyly v0.167 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Polydactyly v0.167 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Polydactyly v0.166 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Polydactyly v0.166 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.202 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to 15843405; 18648327; 19400947; 19656802; 32509774
Hydrocephalus_Ventriculomegaly v0.25 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Hydrocephalus_Ventriculomegaly v0.25 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Hydrocephalus_Ventriculomegaly v0.25 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.25 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Hydrocephalus_Ventriculomegaly v0.24 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Hydrocephalus_Ventriculomegaly v0.23 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.22 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.22 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.21 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.201 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Ciliopathies v0.201 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Green List (High Evidence).
Ciliopathies v0.201 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Ciliopathies v0.200 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Ciliopathies v0.199 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.198 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Ciliopathies v0.198 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3707 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Mendeliome v0.3707 HYLS1 Zornitza Stark Added comment: Comment when marking as ready: Borderline Amber/Green and mechanism unclear. However, given at least two variants reported with a ciliopathy phenotype and supporting functional data from multiple animal models all indicative of ciliopathy, keep Green.
Mendeliome v0.3707 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Green List (High Evidence).
Mendeliome v0.3707 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Mendeliome v0.3707 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Mendeliome v0.3706 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Mendeliome v0.3705 HYLS1 Zornitza Stark Mode of pathogenicity for gene: HYLS1 was changed from to Other
Mendeliome v0.3704 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3703 HYLS1 Melanie Marty reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.144 RAC1 Zornitza Stark Classified gene: RAC1 as Amber List (moderate evidence)
Microcephaly v0.144 RAC1 Zornitza Stark Gene: rac1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.143 RAC1 Zornitza Stark reviewed gene: RAC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30042656, 29276006, 30293988; Phenotypes: Mental retardation, autosomal dominant 48, MIM# 617751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2828 RAC1 Zornitza Stark Marked gene: RAC1 as ready
Intellectual disability syndromic and non-syndromic v0.2828 RAC1 Zornitza Stark Gene: rac1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2828 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48, MIM# 617751 to Mental retardation, autosomal dominant 48, MIM# 617751
Intellectual disability syndromic and non-syndromic v0.2827 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48 617751 to Mental retardation, autosomal dominant 48, MIM# 617751
Intellectual disability syndromic and non-syndromic v0.2827 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from to Mental retardation, autosomal dominant 48 617751
Intellectual disability syndromic and non-syndromic v0.2826 RAC1 Zornitza Stark Publications for gene: RAC1 were set to
Intellectual disability syndromic and non-syndromic v0.2825 RAC1 Zornitza Stark Mode of pathogenicity for gene: RAC1 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2824 RAC1 Zornitza Stark Mode of inheritance for gene: RAC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2823 RAC1 Zornitza Stark edited their review of gene: RAC1: Changed phenotypes: Mental retardation, autosomal dominant 48 617751
Mendeliome v0.3703 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD to Mental retardation, autosomal dominant 48, MIM# 617751
Intellectual disability syndromic and non-syndromic v0.2823 RAC1 Zornitza Stark reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30042656, 29276006, 30293988; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3702 RAC1 Zornitza Stark Marked gene: RAC1 as ready
Mendeliome v0.3702 RAC1 Zornitza Stark Gene: rac1 has been classified as Green List (High Evidence).
Mendeliome v0.3702 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD
Mendeliome v0.3701 RAC1 Zornitza Stark Publications for gene: RAC1 were set to
Mendeliome v0.3700 RAC1 Zornitza Stark Mode of pathogenicity for gene: RAC1 was changed from to Other
Mendeliome v0.3699 RAC1 Zornitza Stark Mode of inheritance for gene: RAC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3698 RAC1 Kristin Rigbye reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30042656, 29276006, 30293988; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3698 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Mendeliome v0.3698 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Mendeliome v0.3698 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anemia, complementation group D2, MIM#227646
Mendeliome v0.3697 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3696 FANCD2 Michelle Torres reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM#227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Adult_SuperPanel v0.309 Zornitza Stark Panel name changed from Cardiomyopathy_SuperPanel to Cardiomyopathy_Adult_SuperPanel
Changed child panels to: Hypertrophic cardiomyopathy_HCM; Dilated Cardiomyopathy; Arrhythmogenic Cardiomyopathy
Callosome v0.179 BCOR Zornitza Stark Marked gene: BCOR as ready
Callosome v0.179 BCOR Zornitza Stark Gene: bcor has been classified as Red List (Low Evidence).
Callosome v0.179 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Callosome v0.178 BCOR Zornitza Stark Publications for gene: BCOR were set to
Callosome v0.177 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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)
Callosome v0.176 BCOR Zornitza Stark Classified gene: BCOR as Red List (low evidence)
Callosome v0.176 BCOR Zornitza Stark Gene: bcor has been classified as Red List (Low Evidence).
Callosome v0.175 BCOR Zornitza Stark reviewed gene: BCOR: Rating: RED; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital Heart Defect v0.55 BCOR Zornitza Stark Marked gene: BCOR as ready
Congenital Heart Defect v0.55 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Congenital Heart Defect v0.55 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Congenital Heart Defect v0.54 BCOR Zornitza Stark Publications for gene: BCOR were set to
Congenital Heart Defect v0.53 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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)
Congenital Heart Defect v0.52 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.225 BCOR Zornitza Stark Marked gene: BCOR as ready
Cataract v0.225 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Cataract v0.225 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Cataract v0.224 BCOR Zornitza Stark Publications for gene: BCOR were set to
Cataract v0.223 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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)
Cataract v0.222 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Marked gene: BCOR as ready
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.64 BCOR Zornitza Stark Publications for gene: BCOR were set to
Anophthalmia_Microphthalmia_Coloboma v0.63 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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)
Anophthalmia_Microphthalmia_Coloboma v0.62 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.3696 BCOR Zornitza Stark Marked gene: BCOR as ready
Mendeliome v0.3696 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Mendeliome v0.3696 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Mendeliome v0.3695 BCOR Zornitza Stark Publications for gene: BCOR were set to
Mendeliome v0.3694 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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 v0.3693 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2823 BCOR Zornitza Stark Marked gene: BCOR as ready
Intellectual disability syndromic and non-syndromic v0.2823 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2823 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Intellectual disability syndromic and non-syndromic v0.2822 BCOR Zornitza Stark Publications for gene: BCOR were set to
Intellectual disability syndromic and non-syndromic v0.2821 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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)
Intellectual disability syndromic and non-syndromic v0.2820 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.3693 SLC25A10 Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mendeliome v0.3692 SLC25A10 Zornitza Stark edited their review of gene: SLC25A10: Changed phenotypes: Intractable epileptic encephalopathy, Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mitochondrial disease v0.459 SLC25A10 Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mitochondrial disease v0.458 SLC25A10 Zornitza Stark reviewed gene: SLC25A10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29211846; Phenotypes: Mitochondrial DNA depletion syndrome 19, MIM# 618972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Adult_SuperPanel v0.296 Zornitza Stark Changed child panels to: Hypertrophic cardiomyopathy_HCM; Dilated Cardiomyopathy; Arrhythmogenic Cardiomyopathy; Left Ventricular Non-compaction Cardiomyopathy; Cardiomyopathy_Paediatric
Dilated Cardiomyopathy v0.83 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hypertrophic cardiomyopathy_HCM v0.153 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hypertrophic cardiomyopathy_HCM v0.152 GAA Zornitza Stark Phenotypes for gene: GAA were changed from to Glycogen storage disease II, MIM#232300
Hypertrophic cardiomyopathy_HCM v0.151 GAA Zornitza Stark Publications for gene: GAA were set to
Hypertrophic cardiomyopathy_HCM v0.150 GAA Zornitza Stark Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy_HCM v0.149 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Hypertrophic cardiomyopathy_HCM v0.149 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy_HCM v0.149 FHL1 Zornitza Stark Classified gene: FHL1 as Green List (high evidence)
Hypertrophic cardiomyopathy_HCM v0.149 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy_HCM v0.148 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Review for gene: FHL1 was set to GREEN
Added comment: HCM is part of the phenotype.
Sources: Expert list
Hypertrophic cardiomyopathy_HCM v0.147 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Hypertrophic cardiomyopathy_HCM v0.147 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy_HCM v0.147 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to 26253506; 28490369; 28866666
Phenotypes for gene: CACNA1C were set to Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities
Review for gene: CACNA1C was set to RED
Added comment: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.
Sources: Expert list
Dilated Cardiomyopathy v0.82 LAMA4 Zornitza Stark Marked gene: LAMA4 as ready
Dilated Cardiomyopathy v0.82 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy_HCM v0.146 GLA Zornitza Stark changed review comment from: HOCM can be a presenting feature of Fabry.; to: HCM can be a presenting feature of Fabry.
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Marked gene: LDB3 as ready
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from to Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493
Dilated Cardiomyopathy v0.81 LDB3 Zornitza Stark Publications for gene: LDB3 were set to 26419279; 16427346; 14660611; 14662268
Dilated Cardiomyopathy v0.81 LDB3 Zornitza Stark Publications for gene: LDB3 were set to
Dilated Cardiomyopathy v0.80 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.80 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.79 LDB3 Zornitza Stark Classified gene: LDB3 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.79 LDB3 Zornitza Stark Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.78 LDB3 Paul De Fazio reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Marked gene: BVES as ready
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Added comment: Comment when marking as ready: Not an arrhythmogenic cardiomyopathy.
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Gene: bves has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Classified gene: BVES as Red List (low evidence)
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Gene: bves has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Added comment: Comment when marking as ready: Included due to phenotypic overlap between ARVC and DCM, limited evidence for association with DCM.
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Gene: pkp2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Classified gene: PKP2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Gene: pkp2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Marked gene: EMD as ready
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Classified gene: EMD as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.76 PKP2 Paul De Fazio edited their review of gene: PKP2: Changed rating: AMBER
Dilated Cardiomyopathy v0.76 PKP2 Paul De Fazio gene: PKP2 was added
gene: PKP2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKP2 were set to 15489853; 16567567
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9 (MIM#609040)
gene: PKP2 was marked as current diagnostic
Added comment: Mutations in the PKP2 gene have been identified in individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC). This condition most commonly affects the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. ARVC increases the risk of an abnormal heartbeat (arrhythmia) and sudden death.

https://ghr.nlm.nih.gov/gene/PKP2
PMID:15489853, 16567567
https://doi.org/10.1371/journal.pone.0100560

ClinVar reports 1 variants only in an individual with DCM annotated as “LP” p.(His679Thr). No data regarding the variant associated with DCM is reported in GnomAD, supporting its low prevalence. However, if this is a variant linked to a clinical phenotype that initially manifested as ACM and then evolved into DCM is yet to be assessed. Considering that clinically cardiomyopathies are diseases with a progressive course, one cannot exclude that DCM cases carrying Pkp2 variants could be cases of advanced Arrythmogenic Cardiomyopathy (ACM or ARVC) which were missed in the initial disease phases. (https://doi.org/10.3389/fcvm.2018.00184)
Sources: Literature
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642
Phenotypes for gene: NKX2-5 were set to Dilated cardiomyopathy
Review for gene: NKX2-5 was set to RED
Added comment: Established gene-disease association with multiple cardiac phenotypes.

PMID: 30354339 (2018) - NKX2.5 variant segregated with disease in one large Icelandic family (11 affecteds with the variant, 12 unaffecteds with the variant - some young). Not in GnomAD but in 1/7100 Icelanders (0.0001 pop freq)

PMID: 28690296 (2017) - Cohort of sporadic adult onset DCM, 2 unrelated individuals with novel variants (absent in their control cohort and GnomAD), functional analysis show significantly reduced transcriptional activity and downstream impact on targets GATA4 and TBX20.

PMID: 25503402 (2015) - Cohort of idiopathic DCM, one family with novel variant (absent in GnomAD), segregated with disease in 3 affected family members (3 meiosis, 2 siblings and a child). Functional analysis revealed significantly reduced transcriptional activity

PMID: 27855642 (2016) - Two unrelated families with multiple affecteds. Same residue, alternate changes, both absent in GnomAD. Non-segregation mentioned, reduced penetrance stated explanation.
Sources: Expert list
Dilated Cardiomyopathy v0.75 EMD Paul De Fazio gene: EMD was added
gene: EMD was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to 24997722
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Review for gene: EMD was set to AMBER
gene: EMD was marked as current diagnostic
Added comment: Associated with Emery-Dreifuss muscular dystrophy. DCM can be a feature. Can find no evidence of isolated DCM.

1 Chinese family was reported with a frameshift variant in EMD who initially presented with only DCM, but were found to also have very mild skeletal muscle degeneration once the variant was discovered (PMID: 24997722).

After discussion with ZS Emery-Dreifuss can be difficult to diagnose, therefore this gene belongs on this panel.
Sources: Literature
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Marked gene: ILK as ready
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Publications for gene: ILK were set to 17646580; 27886618; 25163546
Dilated Cardiomyopathy v0.75 LAMA4 Zornitza Stark Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)
Dilated Cardiomyopathy v0.74 LAMA4 Zornitza Stark Publications for gene: LAMA4 were set to
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Marked gene: TAZ as ready
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Added comment: Comment when marking as ready: Included in the paediatric cardiomyopathy panel.
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.73 LAMA4 Zornitza Stark Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.72 LAMA4 Zornitza Stark Classified gene: LAMA4 as Red List (low evidence)
Dilated Cardiomyopathy v0.72 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.71 LAMA4 Zornitza Stark Tag disputed tag was added to gene: LAMA4.
Dilated Cardiomyopathy v0.71 TAZ Zornitza Stark Classified gene: TAZ as Red List (low evidence)
Dilated Cardiomyopathy v0.71 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.71 ILK Zornitza Stark Publications for gene: ILK were set to
Mendeliome v0.3692 NKX2-5 Dean Phelan reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30354339, 28690296, 25503402, 27855642; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.70 ILK Zornitza Stark Phenotypes for gene: ILK were changed from to Dilated cardiomyopathy
Dilated Cardiomyopathy v0.69 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome (MIM# 302060)
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Classified gene: TAZ as Red List (low evidence)
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.67 LAMA4 Paul De Fazio reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 17646580, 26406308, 27532257; Phenotypes: Cardiomyopathy, dilated, 1JJ (MIM#615235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Classified gene: TBX20 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Marked gene: TCAP as ready
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Added comment: Comment when marking as ready: Very limited evidence for a link with DCM, note most of the variants reported have a population frequency that is out of keeping for a rare Mendelian disorder.
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Classified gene: TCAP as Red List (low evidence)
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Marked gene: JUP as ready
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Added comment: Comment when marking as ready: Note DCM is also a feature of Naxos disease, though additional features also present.
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528); Naxos disease, MIM# 601214
Dilated Cardiomyopathy v0.64 JUP Zornitza Stark Classified gene: JUP as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.64 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.63 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.62 ILK Zornitza Stark Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.61 ILK Zornitza Stark Classified gene: ILK as Red List (low evidence)
Dilated Cardiomyopathy v0.61 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Added comment: Comment when marking as ready: No established link with DCM, but included here due to phenotypic overlap with ARVC.
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Tag SV/CNV tag was added to gene: PRDM16.
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Marked gene: PRDM16 as ready
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Added comment: Comment when marking as ready: Associated with LVNC phenotype, included here due to phenotypic overlap with DCM though the evidence for association with DCM is limited.
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Classified gene: PRDM16 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Added comment: Comment when marking as ready: Borderline number of segregations done as part of the original study.
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Classified gene: GATA6 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Marked gene: FLNC as ready
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Marked gene: FKTN as ready
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.55 FKTN Zornitza Stark Tag SV/CNV tag was added to gene: FKTN.
Dilated Cardiomyopathy v0.55 TAZ Ain Roesley reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.55 TBX20 Ain Roesley gene: TBX20 was added
gene: TBX20 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX20 were set to 26118961; 17668378; 27510170
Phenotypes for gene: TBX20 were set to Dilated cardiomyopathy
Penetrance for gene: TBX20 were set to unknown
Review for gene: TBX20 was set to AMBER
Added comment: PMID: 26118961
- 1x missense (p.(Phe256Ile)) (absent in gnomAD) in a family with 4 affecteds across 2 generations (total of 3 meiosis)

PMID: 17668378;
DCM in 2 individuals in a family with a nonsense variant (p.(Gln195*)) (absent in gnomAD)
- 1 also had mitral valve disease
- the other also had atrial septal defect and pulmonary hypertension

PMID: 27510170;
- 1x in a DCM patient (p.(Glu143*) (absent in gnomAD)
- present in 3 other affected family members across 3 generations
- proband's sister and daughter also presented with congenital atrial septal defect (ASD)
Sources: Literature
Dilated Cardiomyopathy v0.55 TCAP Ain Roesley gene: TCAP was added
gene: TCAP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCAP were set to 31303467; 15582318; 24037902
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954); Cardiomyopathy, hypertrophic, 25 (MIM# 607487)
Penetrance for gene: TCAP were set to unknown
Review for gene: TCAP was set to AMBER
Added comment: PMID: 31303467;
- 1x DCM patient with a missense classified as a VUS by ACMG scheme.
- Glu105Gln (143 hets in gnomAD)

PMID: 15582318;
- 1x DCM patient with a missense
- Glu132Gln (1 het in gnomad)

PMID: 24037902;
- 5x in DCM cohort, all missense except 1 in-frame del
gnomad counts of each variant:
- Glu13del (280 hets, 1 hom)
- Glu105Lys (28 hets)
- Arg106Cys (5095 hets, 523 homs)
- Ala118Val (80 hets, 1 hom)
- Arg158Cys (absent)
Sources: Literature
Early-onset Dementia v0.53 ATN1 Bryony Thompson Tag STR tag was added to gene: ATN1.
Dilated Cardiomyopathy v0.55 JUP Paul De Fazio gene: JUP was added
gene: JUP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528)
Review for gene: JUP was set to AMBER
gene: JUP was marked as current diagnostic
Added comment: Definitive for ARVC by ClinGen but no association with DCM that I can find. This gene is green on PanelApp GEL DCM panel due to phenotypic overlap.
Sources: Literature
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies, although 1 also had a TTN frameshift variant. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I'm not sure where this information comes from.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio reviewed gene: ILK: Rating: AMBER; Mode of pathogenicity: None; Publications: 17646580, 27886618, 25163546; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.55 TMEM43 Ain Roesley gene: TMEM43 was added
gene: TMEM43 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)
Penetrance for gene: TMEM43 were set to unknown
Review for gene: TMEM43 was set to AMBER
Added comment: Definitive for ARVC by ClinGen working group

p.(Ser358Leu) is known as the "Newfoundland" founder variant

From ClinGen:
At least 9 variants (mostly missense) have been reported. However, the pathogenicity of most of the variants is unknown. The majority of genetic evidence comes from case-level data and segregation data for one founder variant, p.(Ser358Leu), which has been reported in more than 20 families with ARVC and occurred 1x de novo (PMID:18313022;21214875;23812740; 22725725;24598986).

*no reports for isolated DCM
Sources: Literature
Dilated Cardiomyopathy v0.55 PRDM16 Naomi Baker gene: PRDM16 was added
gene: PRDM16 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688.
Phenotypes for gene: PRDM16 were set to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Review for gene: PRDM16 was set to AMBER
Added comment: Arndt et al., 2013 (PMID:23768516) identified a minimal deletion region of PRDM16 in 1p36del syndrome. Resequencing a cohort of 75 LVNC patients identified three SNV mutations (one truncation, one frameshift, one missense) and sequencing a series of cardiac biopsies from 131 individuals with DCM identified 5 individuals with 4 previously unreported nonsynonomous variants.

This publication was refuted by Leeuw & Houge 2014 (PMID: 24387995).

Deplancq et al., 2020 (PMID: 31965688) describes the first fetal case of left ventricular non‐compaction (LVNC) with a heterozygous de novo nonsense variant.
Sources: Literature
Dilated Cardiomyopathy v0.55 GATA6 Paul De Fazio gene: GATA6 was added
gene: GATA6 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 25119427; 31301121; 20705924
Phenotypes for gene: GATA6 were set to Dilated cardiomyopathy
Review for gene: GATA6 was set to AMBER
gene: GATA6 was marked as current diagnostic
Added comment: PMID 25119427: 2 Chinese DCM families from a cohort of 140 reported with missense variants in GATA6 (both variants absent from gnomAD). Variants segregated with disease. Luciferase reporter assays showed the GATA6 mutant proteins caused reduced transcriptional activation.

Other clinical reports list complex cardiac phenotypes associated with other abnormalities (especially pancreatic) (PMID: 31301121).

Combinatorial deletion of Gata4 and Gata6 from the adult heart of mice resulted in dilated cardiomyopathy and lethality by 16 weeks of age (PMID: 20705924).
Sources: Literature
Dilated Cardiomyopathy v0.55 FLNC Paul De Fazio changed review comment from: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature; to: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a much higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature
Dilated Cardiomyopathy v0.55 FLNC Paul De Fazio gene: FLNC was added
gene: FLNC was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FLNC were set to 30067491; 28008423; 31245841; 28436997; 32112656
Phenotypes for gene: FLNC were set to Dilated cardiomyopathy
Review for gene: FLNC was set to GREEN
gene: FLNC was marked as current diagnostic
Added comment: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Marked gene: ARSE as ready
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Added comment: Comment when marking as ready: Note HGNC approved name is ARSL.
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Intellectual disability syndromic and non-syndromic v0.2819 ARSE Zornitza Stark Publications for gene: ARSE were set to
Intellectual disability syndromic and non-syndromic v0.2818 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2817 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Intellectual disability syndromic and non-syndromic v0.2817 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301713; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Marked gene: ARSE as ready
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Added comment: Comment when marking as ready: Note HGNC approved name is ARSL.
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Mendeliome v0.3692 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.55 FKTN Paul De Fazio gene: FKTN was added
gene: FKTN was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 17036286; 19015585
Phenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X MIM#611615
Review for gene: FKTN was set to AMBER
gene: FKTN was marked as current diagnostic
Added comment: Total 6 families (5 Japanese) with DCM and mild proximal muscle weakness.

PMID 17036286: 4 Japanese families with dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence. The patients were chet for a 3kb retrotransposon in the FKTN 3' UTR (all patients) and a missense variant (either Gln358Pro or Arg179Thr, both absent from gnomAD). The 3kb insertion is associated with a common founder haplotype and is found in 87% of alleles causing autosomal recessive Fukuyama congenital muscular dystrophy.

PMID 19015585: 1 patient with DCM, mild muscle involvement, and no brain involvement was chet for the 3kb insertion described above and Cys101Phe (absent from gnomad). The 3kb insertion was also found heterozygous in 2 other DCM patients and 3 controls.

DOI: 10.1055/s-0036-1583659 (no PMID, only abstract available) describes 2 sibs of a consanguineous Turkish family with homozygous exon 3 deletion, who had mild, non-progressive proximal muscle weakness and DCM.
Sources: Literature
Skeletal Dysplasia_Fetal v0.24 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Skeletal Dysplasia_Fetal v0.23 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3691 ARSE Zornitza Stark Marked gene: ARSE as ready
Mendeliome v0.3691 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Mendeliome v0.3691 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Mendeliome v0.3690 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Mendeliome v0.3690 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Marked gene: ARSE as ready
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Chondrodysplasia Punctata v0.4 ARSE Zornitza Stark Marked gene: ARSE as ready
Chondrodysplasia Punctata v0.4 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Chondrodysplasia Punctata v0.4 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Chondrodysplasia Punctata v0.4 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Chondrodysplasia Punctata v0.3 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Chondrodysplasia Punctata v0.2 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3690 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Mendeliome v0.3690 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Mendeliome v0.3690 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270
Mendeliome v0.3689 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Mendeliome v0.3688 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3687 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Mendeliome v0.3687 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Mendeliome v0.3687 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038
Mendeliome v0.3686 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Mendeliome v0.3685 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3684 TPP1 Michelle Torres reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 204500, Spinocerebellar ataxia, autosomal recessive 7 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3684 PSAT1 Elena Savva reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32077105; Phenotypes: ?Phosphoserine aminotransferase deficiency 610992, Neu-Laxova syndrome 2 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3684 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Mendeliome v0.3684 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Mendeliome v0.3684 FBXO11 Zornitza Stark Phenotypes for gene: FBXO11 were changed from to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089
Mendeliome v0.3683 FBXO11 Zornitza Stark Publications for gene: FBXO11 were set to
Mendeliome v0.3682 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3681 FBXO11 Zornitza Stark reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679813, 30057029, 29796876; Phenotypes: Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.771 FBXO11 Zornitza Stark edited their review of gene: FBXO11: Changed publications: 30679813, 30057029, 29796876
Intellectual disability syndromic and non-syndromic v0.2817 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Intellectual disability syndromic and non-syndromic v0.2817 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2817 FBXO11 Zornitza Stark Phenotypes for gene: FBXO11 were changed from to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089
Intellectual disability syndromic and non-syndromic v0.2816 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2815 FBXO11 Zornitza Stark Publications for gene: FBXO11 were set to
Intellectual disability syndromic and non-syndromic v0.2815 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2814 FBXO11 Vivian WEI reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679813, 30057029, 29796876; Phenotypes: Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.3681 FRMD7 Zornitza Stark Marked gene: FRMD7 as ready
Mendeliome v0.3681 FRMD7 Zornitza Stark Gene: frmd7 has been classified as Green List (High Evidence).
Mendeliome v0.3681 FRMD7 Zornitza Stark Phenotypes for gene: FRMD7 were changed from to Nystagmus 1, congenital, X-linked 310700; Nystagmus, infantile periodic alternating, X-linked 310700
Mendeliome v0.3680 FRMD7 Zornitza Stark Publications for gene: FRMD7 were set to
Mendeliome v0.3679 FRMD7 Zornitza Stark Mode of inheritance for gene: FRMD7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3678 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Mendeliome v0.3678 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Mendeliome v0.3678 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Mendeliome v0.3677 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Mendeliome v0.3676 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3675 FRMD7 Elena Savva reviewed gene: FRMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19072571, 23406872; Phenotypes: Nystagmus 1, congenital, X-linked 310700, Nystagmus, infantile periodic alternating, X-linked 310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.3675 AIFM1 Elena Savva reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3675 PIGQ Zornitza Stark Deleted their comment
Mendeliome v0.3675 PIGQ Zornitza Stark edited their review of gene: PIGQ: Added comment: Homozygous or compound heterozygous mutations in PIGQ cause Epileptic encephalopathy, early infantile, 77 (MIM #618548).

Johnstone et al (2020 - PMID: 32588908) describe the phenotype of 7 children (from 6 families) with biallelic PIGQ pathogenic variants. The authors also review the phenotype of 3 subjects previously reported in the literature (by Martin et al, Alazami et al, Starr et al - respective PMIDs: 24463883, 25558065, 31148362).

Affected individuals displayed severe to profound global DD/ID and seizures with onset in the first year of life. There were variable other features incl. - among others - genitourinary, cardiac, skeletal, ophthalmological anomalies, gastrointestinal issues. Within the cohort there was significant morbidity/mortality.

PIGQ encodes phosphatidylinositol glycan anchor biosynthesis class Q protein, playing a role (early) in the biosynthesis of the GPI-anchor. Several genes in the GPI biosynthesis pathway cause multi-system disease with DD/ID and seizures. Flow cytometry has been used in individuals with PIGQ-related disorder. Serum ALP was elevated in some (4) although - as the authors comment - elevations are more typical in disorders affecting later steps of GPI biosynthesis.

More than 10 variants have been reported to date (missense / pLoF).; Changed phenotypes: Epileptic encephalopathy, early infantile, 77, MIM# 618548
Mendeliome v0.3675 PIGQ Zornitza Stark Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Genetic Epilepsy v0.771 PIGQ Zornitza Stark Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Marked gene: PIGQ as ready
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Classified gene: PIGQ as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Mendeliome v0.3674 SEC61B Zornitza Stark Marked gene: SEC61B as ready
Mendeliome v0.3674 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3674 SEC61B Zornitza Stark Classified gene: SEC61B as Amber List (moderate evidence)
Mendeliome v0.3674 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3673 SEC61B Zornitza Stark gene: SEC61B was added
gene: SEC61B was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61B were set to 28862642; 30652979; 28375157
Phenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts
Review for gene: SEC61B was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Polycystic liver disease v0.23 SEC61B Zornitza Stark edited their review of gene: SEC61B: Changed publications: 28862642, 30652979, 28375157
Polycystic liver disease v0.23 SEC61B Zornitza Stark changed review comment from: Sources: Expert list; to: Two unrelated individuals reported.Sources: Expert list
Polycystic liver disease v0.23 SEC61B Zornitza Stark Publications for gene: SEC61B were set to 28862642; 30652979
Polycystic liver disease v0.22 SEC61B Zornitza Stark Marked gene: SEC61B as ready
Polycystic liver disease v0.22 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.22 SEC61B Zornitza Stark Classified gene: SEC61B as Amber List (moderate evidence)
Polycystic liver disease v0.22 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.21 SEC61B Zornitza Stark gene: SEC61B was added
gene: SEC61B was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61B were set to 28862642; 30652979
Phenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts
Review for gene: SEC61B was set to AMBER
Added comment: Sources: Expert list
Polycystic liver disease v0.20 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Polycystic liver disease v0.20 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.20 ALG9 Zornitza Stark Classified gene: ALG9 as Amber List (moderate evidence)
Polycystic liver disease v0.20 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.19 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG9 were set to 31395617; 30652979
Phenotypes for gene: ALG9 were set to Polycystic liver and kidney disease
Review for gene: ALG9 was set to AMBER
Added comment: Sources: Expert list
Polycystic liver disease v0.18 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Polycystic liver disease v0.18 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease v0.18 SEC63 Zornitza Stark Classified gene: SEC63 as Green List (high evidence)
Polycystic liver disease v0.18 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease v0.17 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)
Review for gene: SEC63 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Marked gene: PRKCSH as ready
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Classified gene: PRKCSH as Green List (high evidence)
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease v0.15 PRKCSH Zornitza Stark gene: PRKCSH was added
gene: PRKCSH was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCSH were set to 11047756; 29038287; 12529853; 12577059
Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)
Review for gene: PRKCSH was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Classified gene: PKHD1 as Green List (high evidence)
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.13 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)
Review for gene: PKHD1 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.12 PKD2 Zornitza Stark Marked gene: PKD2 as ready
Polycystic liver disease v0.12 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.12 PKD2 Zornitza Stark Classified gene: PKD2 as Green List (high evidence)
Polycystic liver disease v0.12 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.11 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD2 were set to 29321346
Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Review for gene: PKD2 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.10 PKD1 Zornitza Stark Marked gene: PKD1 as ready
Polycystic liver disease v0.10 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.10 PKD1 Zornitza Stark Classified gene: PKD1 as Green List (high evidence)
Polycystic liver disease v0.10 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.9 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD1 were set to 8554072; 3178424; 9211343
Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Review for gene: PKD1 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.8 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Polycystic liver disease v0.8 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease v0.8 LRP5 Zornitza Stark Classified gene: LRP5 as Green List (high evidence)
Polycystic liver disease v0.8 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease v0.7 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP5 were set to 25920554
Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)
Review for gene: LRP5 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.6 GANAB Zornitza Stark Marked gene: GANAB as ready
Polycystic liver disease v0.6 GANAB Zornitza Stark Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease v0.6 GANAB Zornitza Stark Classified gene: GANAB as Green List (high evidence)
Polycystic liver disease v0.6 GANAB Zornitza Stark Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease v0.5 GANAB Zornitza Stark gene: GANAB was added
gene: GANAB was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GANAB were set to 29243290; 27259053; 28862642
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)
Review for gene: GANAB was set to GREEN
Added comment: Multiple liver cysts are a feature of this condition.
Sources: Expert list
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Marked gene: DNAJB11 as ready
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Classified gene: DNAJB11 as Green List (high evidence)
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 DNAJB11 Zornitza Stark gene: DNAJB11 was added
gene: DNAJB11 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Review for gene: DNAJB11 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.2 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Polycystic liver disease v0.2 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease v0.2 ALG8 Zornitza Stark Classified gene: ALG8 as Green List (high evidence)
Polycystic liver disease v0.2 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease v0.1 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG8 were set to 28375157; 15235028
Phenotypes for gene: ALG8 were set to Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Review for gene: ALG8 was set to GREEN
gene: ALG8 was marked as current diagnostic
Added comment: Sources: Expert list
Polycystic liver disease v0.0 Zornitza Stark Added Panel Polycystic liver disease
Set panel types to: Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Hereditary Spastic Paraplegia - paediatric v0.114 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.113 SPG7 Zornitza Stark edited their review of gene: SPG7: Added comment: Please note some of the dominant variants initially reported now have high population frequency in gnomad.; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3672 CHI3L1 Zornitza Stark Marked gene: CHI3L1 as ready
Mendeliome v0.3672 CHI3L1 Zornitza Stark Gene: chi3l1 has been classified as Red List (Low Evidence).
Mendeliome v0.3672 CHI3L1 Zornitza Stark Phenotypes for gene: CHI3L1 were changed from to {Asthma-related traits, susceptibility to, 7} 611960; {Schizophrenia, susceptibility to} 181500
Mendeliome v0.3671 CHI3L1 Zornitza Stark Classified gene: CHI3L1 as Red List (low evidence)
Mendeliome v0.3671 CHI3L1 Zornitza Stark Gene: chi3l1 has been classified as Red List (Low Evidence).
Mendeliome v0.3670 CHI3L1 Zornitza Stark reviewed gene: CHI3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Asthma-related traits, susceptibility to, 7} 611960, {Schizophrenia, susceptibility to} 181500; Mode of inheritance: None
Mendeliome v0.3670 CHI3L1 Chloe Stutterd reviewed gene: CHI3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3670 C3orf52 Zornitza Stark Marked gene: C3orf52 as ready
Mendeliome v0.3670 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3670 C3orf52 Zornitza Stark Classified gene: C3orf52 as Amber List (moderate evidence)
Mendeliome v0.3670 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3669 C3orf52 Zornitza Stark gene: C3orf52 was added
gene: C3orf52 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
Added comment: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Hair disorders v0.36 C3orf52 Zornitza Stark Marked gene: C3orf52 as ready
Hair disorders v0.36 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3668 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Mendeliome v0.3668 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Red List (Low Evidence).
Mendeliome v0.3668 NDUFA8 Zornitza Stark gene: NDUFA8 was added
gene: NDUFA8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures
Review for gene: NDUFA8 was set to RED
Added comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.
Sources: Literature
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark gene: NDUFA8 was added
gene: NDUFA8 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures
Review for gene: NDUFA8 was set to RED
Added comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.
Sources: Literature
Genetic Epilepsy v0.770 PIGQ Konstantinos Varvagiannis reviewed gene: PIGQ: Rating: ; Mode of pathogenicity: None; Publications: 32588908, 24463883, 25558065, 31148362; Phenotypes: Epileptic encephalopathy, early infantile, 77 (MIM #618548); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2813 PIGQ Konstantinos Varvagiannis gene: PIGQ was added
gene: PIGQ was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 32588908; 24463883; 25558065; 31148362
Phenotypes for gene: PIGQ were set to Epileptic encephalopathy, early infantile, 77 (MIM #618548)
Penetrance for gene: PIGQ were set to Complete
Review for gene: PIGQ was set to GREEN
Added comment: Homozygous or compound heterozygous mutations in PIGQ cause Epileptic encephalopathy, early infantile, 77 (MIM #618548).

Johnstone et al (2020 - PMID: 32588908) describe the phenotype of 7 children (from 6 families) with biallelic PIGQ pathogenic variants. The authors also review the phenotype of 3 subjects previously reported in the literature (by Martin et al, Alazami et al, Starr et al - respective PMIDs: 24463883, 25558065, 31148362).

Affected individuals displayed severe to profound global DD/ID and seizures with onset in the first year of life. There were variable other features incl. - among others - genitourinary, cardiac, skeletal, ophthalmological anomalies, gastrointestinal issues. Within the cohort there was significant morbidity/mortality.

PIGQ encodes phosphatidylinositol glycan anchor biosynthesis class Q protein, playing a role (early) in the biosynthesis of the GPI-anchor. Several genes in the GPI biosynthesis pathway cause multi-system disease with DD/ID and seizures. Flow cytometry has been used in individuals with PIGQ-related disorder. Serum ALP was elevated in some (4) although - as the authors comment - elevations are more typical in disorders affecting later steps of GPI biosynthesis.

More than 10 variants have been reported to date (missense / pLoF).

Overall PIGQ can be considered for green rating in both ID and epilepsy gene panels.
Sources: Literature
Hair disorders v0.36 C3orf52 Chirag Patel changed review comment from: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis.
Sources: Literature; to: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Hair disorders v0.36 C3orf52 Chirag Patel Classified gene: C3orf52 as Amber List (moderate evidence)
Hair disorders v0.36 C3orf52 Chirag Patel Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.35 C3orf52 Chirag Patel gene: C3orf52 was added
gene: C3orf52 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to PMID: 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
gene: C3orf52 was marked as current diagnostic
Added comment: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis.
Sources: Literature
Ciliopathies v0.198 DLG5 Zornitza Stark Marked gene: DLG5 as ready
Ciliopathies v0.198 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Mendeliome v0.3667 DLG5 Zornitza Stark Marked gene: DLG5 as ready
Mendeliome v0.3667 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Mendeliome v0.3667 DLG5 Zornitza Stark Classified gene: DLG5 as Green List (high evidence)
Mendeliome v0.3667 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Mendeliome v0.3666 DLG5 Zornitza Stark gene: DLG5 was added
gene: DLG5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Review for gene: DLG5 was set to GREEN
Added comment: Four unrelated families reported, supportive Xenopus animal model data.
Sources: Literature
Ciliopathies v0.198 DLG5 Zornitza Stark Classified gene: DLG5 as Green List (high evidence)
Ciliopathies v0.198 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Ciliopathies v0.197 DLG5 Zornitza Stark gene: DLG5 was added
gene: DLG5 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Review for gene: DLG5 was set to GREEN
Added comment: Four unrelated families reported, supportive Xenopus animal model data.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Marked gene: MCM8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Gene: mcm8 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Publications for gene: MCM8 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.30 MCM8 Zornitza Stark Phenotypes for gene: MCM8 were changed from to Premature ovarian failure 10, MIM# 612885
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Marked gene: SCAF4 as ready
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Classified gene: SCAF4 as Green List (high evidence)
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Marked gene: NCKAP1L as ready
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Classified gene: NCKAP1L as Green List (high evidence)
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.59 NCKAP1L Zornitza Stark gene: NCKAP1L was added
gene: NCKAP1L was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCKAP1L were set to 32647003
Phenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation
Review for gene: NCKAP1L was set to GREEN
Added comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed.
Sources: Literature
Lymphoedema_syndromic v0.4 FBXL7 Zornitza Stark Marked gene: FBXL7 as ready
Lymphoedema_syndromic v0.4 FBXL7 Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence).
Lymphoedema_syndromic v0.4 FBXL7 Zornitza Stark gene: FBXL7 was added
gene: FBXL7 was added to Lymphoedema_syndromic. Sources: Literature
Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL7 were set to 31633297
Phenotypes for gene: FBXL7 were set to Hennekam syndrome; lymphedema
Review for gene: FBXL7 was set to RED
Added comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2813 HPDL Zornitza Stark Marked gene: HPDL as ready
Intellectual disability syndromic and non-syndromic v0.2813 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2813 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Intellectual disability syndromic and non-syndromic v0.2812 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2812 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Regression v0.129 HPDL Zornitza Stark Marked gene: HPDL as ready
Regression v0.129 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Regression v0.129 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Regression v0.128 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Regression v0.128 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.457 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Mitochondrial disease v0.456 HPDL Zornitza Stark Marked gene: HPDL as ready
Mitochondrial disease v0.456 HPDL Zornitza Stark Added comment: Comment when marking as ready: Leigh-like phenotype, HPDL has a mitochondrial localization signal and consequently localizes to mitochondria suggesting a putative role in mitochondrial metabolism.
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.456 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mendeliome v0.3665 AHR Zornitza Stark Marked gene: AHR as ready
Mendeliome v0.3665 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3665 AHR Zornitza Stark Classified gene: AHR as Amber List (moderate evidence)
Mendeliome v0.3665 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3664 M1AP Zornitza Stark Marked gene: M1AP as ready
Mendeliome v0.3664 M1AP Zornitza Stark Gene: m1ap has been classified as Green List (High Evidence).
Mendeliome v0.3664 M1AP Zornitza Stark Classified gene: M1AP as Green List (high evidence)
Mendeliome v0.3664 M1AP Zornitza Stark Gene: m1ap has been classified as Green List (High Evidence).
Mendeliome v0.3663 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability
Mendeliome v0.3662 RELN Zornitza Stark edited their review of gene: RELN: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3662 RELN Zornitza Stark changed review comment from: Well established gene-disease association with bi-allelic variants and lissencephaly.; to: Well established gene-disease association with bi-allelic variants and lissencephaly. Mono-allelic variants linked to epilepsy.
Mendeliome v0.3662 RELN Zornitza Stark edited their review of gene: RELN: Changed phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320, {Epilepsy, familial temporal lobe, 7} 616436
Mendeliome v0.3662 RELN Zornitza Stark Marked gene: RELN as ready
Mendeliome v0.3662 RELN Zornitza Stark Gene: reln has been classified as Green List (High Evidence).
Mendeliome v0.3662 RELN Zornitza Stark Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; {Epilepsy, familial temporal lobe, 7}, MIM# 616436; ankylosing spondylitis
Mendeliome v0.3661 RELN Zornitza Stark Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis
Mendeliome v0.3660 RELN Zornitza Stark Publications for gene: RELN were set to
Mendeliome v0.3659 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3658 RELN Zornitza Stark reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.21 FANCB Zornitza Stark Marked gene: FANCB as ready
Hydrocephalus_Ventriculomegaly v0.21 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.21 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B (MIM#300514)
Hydrocephalus_Ventriculomegaly v0.20 FANCB Zornitza Stark Publications for gene: FANCB were set to
Hydrocephalus_Ventriculomegaly v0.19 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.113 CALCRL Zornitza Stark Marked gene: CALCRL as ready
Hydrops fetalis v0.113 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Hydrops fetalis v0.113 CALCRL Zornitza Stark gene: CALCRL was added
gene: CALCRL was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to 30115739
Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Single family reported with several affected pregnancies.
Sources: Literature
Mendeliome v0.3658 CALCRL Zornitza Stark Marked gene: CALCRL as ready
Mendeliome v0.3658 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Mendeliome v0.3658 CALCRL Zornitza Stark Classified gene: CALCRL as Red List (low evidence)
Mendeliome v0.3658 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.34 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Arrhythmogenic Cardiomyopathy v0.34 DSG2 Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.34 DSG2 Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Arrhythmogenic Cardiomyopathy v0.33 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.32 DSG2 Zornitza Stark reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3657 CALCRL Hazel Phillimore gene: CALCRL was added
gene: CALCRL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to PMID: 30115739
Phenotypes for gene: CALCRL were set to ?Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Homozygous in-frame deletion (Val205del) in the CALCRL gene (Val205del) in a 22 week-old fetus with hydrops details due to lymphatic malformation. Consanguineous parents.
Heterozygosity of the variant was also suggested to be associated with spontaneous miscarriage and subfertility. Consanguineous family with 8 total miscarriages from 3 carrier women, and 2 of these were confirmed to be due to hydrops fetalis.
Note: possible association of a variant in ASAH1 gene that is associated with Farber lipogranulomatosis which can sometimes present with antenatal hydrops fetalis. (Homozygosity in one of the fetuses, fetus and heterozygosity in some of the family members).
In vitro biochemical assays indicated that the variant causes misfolding of the protein and reduced association with its chaperone, RAMP2, and reduced translocation to the plasma membrane. (PMID: 30115739; Mackie, DI. et al., 2018).
Sources: Literature
Arrhythmogenic Cardiomyopathy v0.31 CHD2 Zornitza Stark changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported.
Sources: Expert list; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.31 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Arrhythmogenic Cardiomyopathy v0.31 PKP2 Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.31 PKP2 Zornitza Stark Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040