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| DDG2P v3.19 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.19 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.19 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.18 | SUFU |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance. The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847).; to: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance. The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847). |
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| DDG2P v3.12 | SUFU | Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28965847, 34675124, 33024317; Phenotypes: Joubert Syndrome with Cranio-facial and Skeletal Defects, SUFU-related Joubert and congenital ocular motor apraxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAX | Achchuthan Shanmugasundram reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 18783408, 14662654; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 3, OMIM:611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNKP | Achchuthan Shanmugasundram reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728773, 20118933; Phenotypes: ATAXIA-OCULOMOTOR APRAXIA 4, OMIM:616267; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | APTX | Achchuthan Shanmugasundram reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: 15852392, 11586300, 12196655, 11586299, 15365154; Phenotypes: ATAXIA WITH OCULOMOTOR APRAXIA 1, OMIM:208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAX | Achchuthan Shanmugasundram Publications for gene: RAX were updated from 14662654; 18783408 to 18783408; 14662654 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.69 | CHD3 | Rebecca Foulger Phenotypes for gene: CHD3 were changed from Apraxia of speech to Apraxia of speech | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RAX | Rebecca Foulger reviewed gene: RAX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SRPX2 |
Rebecca Foulger gene: SRPX2 was added gene: SRPX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SRPX2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPX2 were set to 16497722 Phenotypes for gene: SRPX2 were set to ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643 Mode of pathogenicity for gene: SRPX2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RAX |
Rebecca Foulger gene: RAX was added gene: RAX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAX were set to 14662654; 18783408 Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3 611038 |
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| DDG2P v0.1 | PNKP |
Rebecca Foulger Added phenotypes ATAXIA-OCULOMOTOR APRAXIA 4 616267 for gene: PNKP Publications for gene PNKP were changed from 20118933 to 25728773 |
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| DDG2P v0.1 | CHD3 |
Rebecca Foulger gene: CHD3 was added gene: CHD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD3 were set to Apraxia of speech Mode of pathogenicity for gene: CHD3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | APTX |
Rebecca Foulger gene: APTX was added gene: APTX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 12196655; 11586300; 11586299; 15365154; 15852392 Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 208920 |
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