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| DDG2P v3.12 | RIN2 | Achchuthan Shanmugasundram reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19631308; Phenotypes: MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1CB | Achchuthan Shanmugasundram reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27264673; Phenotypes: Rasopathy with developmental delay, short stature and sparse slow-growing hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTO | Achchuthan Shanmugasundram reviewed gene: FTO: Rating: RED; Mode of pathogenicity: Other; Publications: 19559399; Phenotypes: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLNB | Achchuthan Shanmugasundram reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18257094, 16801345, 14991055, 18386804; Phenotypes: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, OMIM:272460, ATELOSTEOGENESIS TYPE 1, OMIM:108720, AUTOSOMAL DOMINANT LARSEN SYNDROME, OMIM:150250, ATELOSTEOGENESIS TYPE 3, OMIM:108721; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSE | Achchuthan Shanmugasundram reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 7720070, 12567415, 9409863; Phenotypes: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED, OMIM:302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARSE | Achchuthan Shanmugasundram Publications for gene: ARSE were updated from 9409863; 7720070; 12567415 to 7720070; 12567415; 9409863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | ARSE | Louise Daugherty Tag new-gene-name tag was added to gene: ARSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | ARSE | Louise Daugherty commented on gene: ARSE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARSE | Rebecca Foulger reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RIN2 |
Rebecca Foulger gene: RIN2 was added gene: RIN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIN2 were set to 19631308 Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
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| DDG2P v0.1 | PPP1CB |
Rebecca Foulger gene: PPP1CB was added gene: PPP1CB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27264673 Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair Mode of pathogenicity for gene: PPP1CB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GZF1 |
Rebecca Foulger gene: GZF1 was added gene: GZF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GZF1 were set to 28475863 Phenotypes for gene: GZF1 were set to LARSEN SYNDROME |
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| DDG2P v0.1 | FTO |
Rebecca Foulger gene: FTO was added gene: FTO was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to 19559399 Phenotypes for gene: FTO were set to GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938 Mode of pathogenicity for gene: FTO was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FLNB |
Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250 for gene: FLNB Publications for gene FLNB were changed from 18257094; 14991055; 18386804 to 14991055; 16801345 |
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| DDG2P v0.1 | ARSE |
Rebecca Foulger gene: ARSE was added gene: ARSE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARSE were set to 9409863; 7720070; 12567415 Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950 |
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