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| DDG2P v3.12 | TUBB4A | Achchuthan Shanmugasundram reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23582646; Phenotypes: HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAT2 | Achchuthan Shanmugasundram reviewed gene: STAT2: Rating: RED; Mode of pathogenicity: ; Publications: 26408653, 26122121; Phenotypes: Recessive gain of function causing increased interferon signalling, Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYROXD1 | Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27745833; Phenotypes: Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HEXB | Achchuthan Shanmugasundram reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9888387, 8045559, 3014997, 571983, 2973515, 18758829, 1531140, 2921040, 7633435, 10724; Phenotypes: GM2-GANGLIOSIDOSIS TYPE 2, OMIM:268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HEXA | Achchuthan Shanmugasundram reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 2140574, 14648242, 9401004, 2848800, 6959123, 1483696, 21937992, 2934978, 1532289, 9272736, 1301190, 8757036, 2522679, 1322637, 2976595, 1384323, 15108204, 1301958, 1827945, 2961848, 1833974, 1837283, 3362213, 9603435, 8490625, 2954459, 1825014, 1302612, 3754980; Phenotypes: GM2-GANGLIOSIDOSIS TYPE 1, OMIM:272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GM2A | Achchuthan Shanmugasundram reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10364519, 8900233, 1915858, 8244332; Phenotypes: GM2-GANGLIOSIDOSIS TYPE AB, OMIM:272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLB1 | Achchuthan Shanmugasundram reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1907800, 12644936, 1606711, 10841810, 1928092, 7586649, 1909089, 8199591, 8213816, 10737981, 8198123, 11511921; Phenotypes: GM1-GANGLIOSIDOSIS TYPE 3, OMIM:230650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAN | Achchuthan Shanmugasundram reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062483, 29876741, 20949505, 30246730, 19231187, 30532362; Phenotypes: Giant axonal neuropathy 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DEAF1 | Achchuthan Shanmugasundram reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26048982, 24726472, 26834045, 21076407; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828, Autism, intellectual disability, basal ganglia dysfunction and epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCAP31 | Achchuthan Shanmugasundram reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 28332767, 24011989; Phenotypes: DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GAN |
Achchuthan Shanmugasundram gene: GAN was added gene: GAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAN were set to 11062483; 29876741; 20949505; 30246730; 19231187; 30532362 Phenotypes for gene: GAN were set to Giant axonal neuropathy 1 |
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| DDG2P v0.1 | TUBB4A |
Rebecca Foulger gene: TUBB4A was added gene: TUBB4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to 23582646 Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | STAT2 |
Rebecca Foulger gene: STAT2 was added gene: STAT2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT2 were set to 26408653; 26122121 Phenotypes for gene: STAT2 were set to Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission |
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| DDG2P v0.1 | PYROXD1 |
Rebecca Foulger gene: PYROXD1 was added gene: PYROXD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 27745833 Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization |
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| DDG2P v0.1 | HEXB |
Rebecca Foulger gene: HEXB was added gene: HEXB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to 571983; 9888387; 8045559; 2921040; 3014997; 2973515; 18758829; 7633435; 10724; 1531140 Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2 268800 |
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| DDG2P v0.1 | HEXA |
Rebecca Foulger gene: HEXA was added gene: HEXA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to 1302612; 21937992; 1301958; 2934978; 2954459; 3362213; 9401004; 9603435; 1833974; 1825014; 15108204; 3754980; 1322637; 1301190; 2976595; 6959123; 1384323; 2961848; 9272736; 1483696; 2848800; 1837283; 2522679; 1827945; 1532289; 2140574; 14648242; 8757036; 8490625 Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1 272800 |
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| DDG2P v0.1 | GM2A |
Rebecca Foulger gene: GM2A was added gene: GM2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GM2A were set to 8900233; 8244332; 10364519; 1915858 Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB 272750 |
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| DDG2P v0.1 | GLB1 |
Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 3 230650 for gene: GLB1 Publications for gene GLB1 were changed from 1907800; 10737981; 1909089; 8199591; 10841810; 1928092; 1606711; 8213816 to 1907800; 1909089; 8198123 |
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| DDG2P v0.1 | GLB1 |
Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 1 230500 for gene: GLB1 Publications for gene GLB1 were changed from 1909089; 12644936 to 1907800; 10737981; 1909089; 8199591; 10841810; 1928092; 1606711; 8213816 |
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| DDG2P v0.1 | GLB1 |
Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 2 230600 for gene: GLB1 Publications for gene GLB1 were changed from 1928092; 11511921; 7586649; 10841810 to 1909089; 12644936 |
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| DDG2P v0.1 | DEAF1 |
Rebecca Foulger Added phenotypes Autism, intellectual disability, basal ganglia dysfunction and epilepsy for gene: DEAF1 Publications for gene DEAF1 were changed from 24726472; 21076407 to 26834045; 26048982 |
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| DDG2P v0.1 | BCAP31 |
Rebecca Foulger gene: BCAP31 was added gene: BCAP31 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCAP31 were set to 24011989 Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS |
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