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| Intellectual disability v5.302 | TMEM147 | Arina Puzriakova Tag Q1_23_promote_green was removed from gene: TMEM147. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.286 | TMEM147 | Arina Puzriakova reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.286 | TMEM147 |
Arina Puzriakova Source NHS GMS was added to TMEM147. Source Expert Review Green was added to TMEM147. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v4.44 | TMEM147 | Sarah Leigh Classified gene: TMEM147 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.44 | TMEM147 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.44 | TMEM147 | Sarah Leigh Gene: tmem147 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.43 | TMEM147 |
Sarah Leigh gene: TMEM147 was added gene: TMEM147 was added to Intellectual disability. Sources: Literature Q1_23_promote_green tags were added to gene: TMEM147. Mode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM147 were set to 36044892 Phenotypes for gene: TMEM147 were set to Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, OMIM:620075 Review for gene: TMEM147 was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. PMID: 36044892 reports 12 variants in at least 15 unrelated derived from GeneMatcher. Supportive functional evidence is also presented. Sources: Literature |
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