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| Intellectual disability v3.1564 | SMARCA5 | Eleanor Williams Tag gene-checked tag was added to gene: SMARCA5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | SMARCA5 |
Ivone Leong Tag Q2_21_rating was removed from gene: SMARCA5. Tag Q2_21_NHS_review was removed from gene: SMARCA5. |
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| Intellectual disability v3.1519 | SMARCA5 | Sarah Leigh commented on gene: SMARCA5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | SMARCA5 |
Ivone Leong Source Expert Review Green was added to SMARCA5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v3.1120 | SMARCA5 | Zornitza Stark reviewed gene: SMARCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33980485; Phenotypes: Neurodevelopmental disorder, microcephaly, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1117 | SMARCA5 |
Arina Puzriakova Tag Q2_21_rating tag was added to gene: SMARCA5. Tag Q2_21_NHS_review tag was added to gene: SMARCA5. |
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| Intellectual disability v3.1117 | SMARCA5 | Arina Puzriakova Classified gene: SMARCA5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1117 | SMARCA5 |
Arina Puzriakova Added comment: Comment on list classification: New gene added and reviewed Green by Julia Baptista (RD&E NHS FT). SMARCA5 should be promoted to Green at the next GMS panel update. Variants have been associated with a variable neurodevelopmental phenotype including predominantly mild DD, short stature, and microcephaly (PMID:33980485). Regarding cognition, four probands had mild ID and one had severe ID. Although relatively mild in most patients, the number of unrelated families presenting ID is sufficient for a Green rating and inclusion on this panel should increase the likelihood of detecting cases. |
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| Intellectual disability v3.1117 | SMARCA5 | Arina Puzriakova Gene: smarca5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1100 | SMARCA5 |
Julia Baptista gene: SMARCA5 was added gene: SMARCA5 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA5 were set to 33980485 Phenotypes for gene: SMARCA5 were set to intellectual disability; postnatal microcephaly; hypotonia; failure to thrive Penetrance for gene: SMARCA5 were set to unknown Review for gene: SMARCA5 was set to GREEN Added comment: The authors identified seven missense variants, one splice-altering variant that led to exon skipping and in-frame deletion, and one recurrent in-frame deletion in 12 individuals from 10 unrelated families. The variant was de novo in nine individuals. They presented a broad range of clinical features from isolated autism to syndromic intellectual disability. Sources: Literature |
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