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| 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 | PGAP1 | Achchuthan Shanmugasundram reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25804403, 26050939, 24784135; Phenotypes: Intellectual disability, encephalopathy, impaired GPI-anchor maturation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | P4HTM | Achchuthan Shanmugasundram reviewed gene: P4HTM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35908151, 34285383, 30940925, 32965080; Phenotypes: Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFIB | Achchuthan Shanmugasundram reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402; Phenotypes: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAS2L2 | Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30665704; Phenotypes: Impaired Cilia Orientation and Mucociliary Clearance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUX1 | Achchuthan Shanmugasundram reviewed gene: CUX1: Rating: RED; Mode of pathogenicity: ; Publications: 30014507; Phenotypes: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD3 | Achchuthan Shanmugasundram reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30397230; Phenotypes: Macrocephaly and impaired speech and language; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIRE | Achchuthan Shanmugasundram reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398839, 12050215, 16965330, 9398840, 9837820; Phenotypes: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1, OMIM:240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | P4HTM |
Achchuthan Shanmugasundram gene: P4HTM was added gene: P4HTM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P4HTM were set to 35908151; 34285383; 30940925; 32965080 Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493 |
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| DDG2P v3.11 | CUX1 |
Achchuthan Shanmugasundram gene: CUX1 was added gene: CUX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX1 were set to 30014507 Phenotypes for gene: CUX1 were set to GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT |
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| DDG2P v3.11 | AIRE | Achchuthan Shanmugasundram Publications for gene: AIRE were updated from 9398839 to 9398839; 12050215; 16965330; 9398840; 9837820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.72 | GNAI1 | Arina Puzriakova Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | TPP2 |
Dmitrijs Rots gene: TPP2 was added gene: TPP2 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP2 were set to PMID: 25414442 Phenotypes for gene: TPP2 were set to Developmental delay; immunodefficiency; autoimmunity Review for gene: TPP2 was set to GREEN Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion) syndrome are summarized in 25414442, where in 9/14 DD was present, which seems to be a common feature. Sources: Literature |
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| DDG2P v2.50 | ATG7 |
Dmitrijs Rots gene: ATG7 was added gene: ATG7 was added to DDG2P. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to PMID:34161705 Phenotypes for gene: ATG7 were set to developmental delay; ataxia Review for gene: ATG7 was set to GREEN Added comment: Zornitsa Stark wrote for this gene in Ataxia panel: "12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk. Functional data including mouse model. " Should be also on ID panel. Sources: Literature |
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| DDG2P v1.131 | AIRE | Rebecca Foulger commented on gene: AIRE: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | AIRE |
Rebecca Foulger Source Expert Review Green was added to AIRE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | AIRE | Rebecca Foulger commented on gene: AIRE: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.71 | CHD3 | Rebecca Foulger Phenotypes for gene: CHD3 were changed from Apraxia of speech to Macrocephaly and impaired speech and language | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.69 | CHD3 | Rebecca Foulger Added comment: Comment on phenotypes: Replaced phenotype 'Apraxia of speech' with 'Macrocephaly and impaired speech and language' to reflect June 2019 DD-G2P update for CHD3. Disease confidence rating remains as: probable. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: all missense/in frame. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | GAS2L2 |
Rebecca Foulger gene: GAS2L2 was added gene: GAS2L2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS2L2 were set to 30665704 Phenotypes for gene: GAS2L2 were set to Impaired Cilia Orientation and Mucociliary Clearance |
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| DDG2P v0.95 | AIRE | Rebecca Foulger commented on gene: AIRE: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | AIRE |
Rebecca Foulger Source Expert Review Amber was added to AIRE. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | AIRE | Rebecca Foulger reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PGAP1 |
Rebecca Foulger gene: PGAP1 was added gene: PGAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP1 were set to 24784135; 26050939; 25804403 Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation |
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| DDG2P v0.1 | AIRE |
Rebecca Foulger gene: AIRE was added gene: AIRE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIRE were set to 9398839 Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300 |
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