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| DDG2P v3.12 | WDR34 | Achchuthan Shanmugasundram reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24183449; Phenotypes: SEVERE ASPHYXIATING THORACIC DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR19 | Achchuthan Shanmugasundram reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: 19430947, 22019273; Phenotypes: CRANIOECTODERMAL DYSPLASIA 4, OMIM:614378, ASPHYXIATING THORACIC DYSTROPHY 5, OMIM:614376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDIA6 | Achchuthan Shanmugasundram reviewed gene: PDIA6: Rating: RED; Mode of pathogenicity: ; Publications: 33495992, 35856135; Phenotypes: PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT80 | Achchuthan Shanmugasundram reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17468754; Phenotypes: ASPHYXIATING THORACIC DYSTROPHY 2, OMIM:611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSPP1 | Achchuthan Shanmugasundram reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24360808; Phenotypes: JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASPH | Achchuthan Shanmugasundram reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 24768550; Phenotypes: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS, OMIM:601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDIA6 |
Achchuthan Shanmugasundram gene: PDIA6 was added gene: PDIA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDIA6 were set to 33495992; 35856135 Phenotypes for gene: PDIA6 were set to PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy |
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| DDG2P v3.11 | ASPH |
Achchuthan Shanmugasundram Source Expert Review Green was added to ASPH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.7 | DYNC2H1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Rating should have been Green in original file upload because DDG2P rating is confirmed for both disorders: ASPHYXIATING THORACIC DYSTROPHY TYPE 3, and SHORT RIB-POLYDACTYLY SYNDROME TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASPH | Rebecca Foulger reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WDR34 | Rebecca Foulger Added phenotypes SEVERE ASPHYXIATING THORACIC DYSPLASIA for gene: WDR34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WDR19 |
Rebecca Foulger Added phenotypes ASPHYXIATING THORACIC DYSTROPHY 5 614376 for gene: WDR19 Publications for gene WDR19 were changed from 22019273 to 19430947 |
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| DDG2P v0.1 | IFT80 |
Rebecca Foulger gene: IFT80 was added gene: IFT80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT80 were set to 17468754 Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2 611263 Mode of pathogenicity for gene: IFT80 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DYNC2H1 |
Rebecca Foulger gene: DYNC2H1 was added gene: DYNC2H1 was added to DDG2P. Sources: Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC2H1 were set to 19442771 Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091 |
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| DDG2P v0.1 | CSPP1 |
Rebecca Foulger gene: CSPP1 was added gene: CSPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSPP1 were set to 24360808 Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY |
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| DDG2P v0.1 | ASPH |
Rebecca Foulger gene: ASPH was added gene: ASPH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPH were set to 24768550 Phenotypes for gene: ASPH were set to FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS |
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