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| Intellectual disability v9.287 | PHF5A | Arina Puzriakova Classified gene: PHF5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.287 | PHF5A | Arina Puzriakova Added comment: Comment on list classification: At least 10 unrelated individuals have been reported with de novo variants in the PHF5A gene. Syndromic developmental delay is reported in at least 9 of those cases, with five individuals developing intellectual disability later in life. Inclusion on this panel would also enable inclusion of the R27 Paediatric disorders super panel which appears relevant to the presentation. Therefore, this gene should be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.287 | PHF5A | Arina Puzriakova Gene: phf5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.286 | PHF5A |
Arina Puzriakova gene: PHF5A was added gene: PHF5A was added to Intellectual disability. Sources: Literature Q1_26_promote_green tags were added to gene: PHF5A. Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHF5A were set to 33811463; 37422718 Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations Review for gene: PHF5A was set to GREEN Added comment: PMID: 33811463 - de novo nonsense variant c.162C>A / p.(Tyr54*) in PHF5A was reported in a patient with left microtia and bilateral absence of 12th ribs PMID: 37422718 - 9 unrelated individuals with congenital malformations, including preauricular tags and hypospadias, short stature, subtle skeletal features, craniofacial dysmorphism. All had developmental delay, and five individuals developed ID later in life (1 severe, 4 mild). All harboured de novo heterozygous PHF5A variants, including 4 nonsense, 3 missense, 1 splice, and 1 start-loss variant. Sources: Literature |
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