Activity
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10 actions
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| Intellectual disability v9.234 | WASHC4 | Ida Ertmanska Phenotypes for gene: WASHC4 were changed from Mental retardation, autosomal recessive 43, 615817 to Intellectual developmental disorder, autosomal recessive 43, OMIM:615817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.232 | WASHC4 | Ida Ertmanska changed review comment from: Comment on list classification: Based on new guidance from our clinical team, syndromic intellectual disability cases should be included on this panel. There are 3 unrelated families with individuals affected by syndromic ID, harbouring biallelic variants in WASHC4. Hence, WASHC4 should be promoted to Green for Intellectual disability at the next GMS update.; to: Comment on list classification: Based on new guidance from our clinical team, syndromic intellectual disability cases should be included on this panel - regardless of severity. There are 3 unrelated families with individuals affected by syndromic ID, harbouring biallelic variants in WASHC4. Hence, WASHC4 should be promoted to Green for Intellectual disability at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.232 | WASHC4 | Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: WASHC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.231 | WASHC4 | Ida Ertmanska reviewed gene: WASHC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 43, OMIM:615817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.327 | WASHC4 | Arina Puzriakova Phenotypes for gene: WASHC4 were changed from Mental retardation, autosomal recessive 43, MIM #615817 to Mental retardation, autosomal recessive 43, 615817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.326 | WASHC4 | Arina Puzriakova Classified gene: WASHC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.326 | WASHC4 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber in view of mild/borderline ID in 2/3 families. Additional cases with a more significant manifestation of ID required before inclusion of WASHC4 on a diagnostic panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.326 | WASHC4 | Arina Puzriakova Gene: washc4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.325 | WASHC4 | Arina Puzriakova reviewed gene: WASHC4: Rating: ; Mode of pathogenicity: None; Publications: 21498477, 31953988; Phenotypes: Mental retardation, autosomal recessive 43, 615817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.295 | WASHC4 |
Zornitza Stark gene: WASHC4 was added gene: WASHC4 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: WASHC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WASHC4 were set to 31953988; 21498477 Phenotypes for gene: WASHC4 were set to Mental retardation, autosomal recessive 43, MIM #615817 Review for gene: WASHC4 was set to GREEN gene: WASHC4 was marked as current diagnostic Added comment: Three unrelated families reported. Sources: Literature |
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