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| Growth failure v2.9 | EIF1AX | Rylee Peters Marked gene: EIF1AX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v2.9 | EIF1AX | Rylee Peters Gene: eif1ax has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v2.9 | EIF1AX |
Rylee Peters changed review comment from: PMID: 42337333 reports 4 hemizygous males from 4 families with de novo hemizygous EIF1AX missense variants presenting with an X-linked syndromic neurodevelopmental disorder characterised by global developmental delay, autistic behaviour, facial dysmorphism, short stature and brain imaging abnormalities (3/4). All variants are absent from gnomAD (v4). Sources: Literature; to: PMID: 42337333 reports 4 hemizygous males from 4 families with de novo hemizygous EIF1AX missense variants presenting with an X-linked syndromic neurodevelopmental disorder characterised by global developmental delay, autistic behaviour, facial dysmorphism, short stature (<3SD in 3/4) and brain imaging abnormalities (3/4). All variants are absent from gnomAD (v4). Sources: Literature |
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| Growth failure v2.9 | Rylee Peters Copied gene EIF1AX from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v2.9 | EIF1AX |
Rylee Peters gene: EIF1AX was added gene: EIF1AX was added to Growth failure. Sources: Expert Review Green,Literature Mode of inheritance for gene: EIF1AX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EIF1AX were set to 42337333 Phenotypes for gene: EIF1AX were set to Neurodevelopmental disorder, MONDO:0700092, EIF1AX-related |
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