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| Mendeliome v1.4631 | DLX5 | Zornitza Stark edited their review of gene: DLX5: Added comment: PMID 41760400 adds a new family with a homozygous nonsense DLX5 variant c.97G>T (NM_005221.6) causing autosomal recessive split‑hand/foot malformation type 1D (SHFM1D) accompanied by hypospadias, sensorineural hearing loss and atrial septal defect; Changed publications: 22121204, 24496061, 25196357, 20534536, 12112878, 41760400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3107 | HFM1 | Bryony Thompson Marked gene: HFM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3107 | HFM1 | Bryony Thompson Gene: hfm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3107 | HFM1 | Bryony Thompson Classified gene: HFM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3107 | HFM1 | Bryony Thompson Gene: hfm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3106 | HFM1 |
Bryony Thompson gene: HFM1 was added gene: HFM1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: HFM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HFM1 were set to 23555294; 24597873; 31279343 Phenotypes for gene: HFM1 were set to Premature ovarian failure 9 MIM#615724 Review for gene: HFM1 was set to GREEN Added comment: Three cases from 2 unrelated families with compound heterozygous variants, and a single family with a heterozygous variant have been reported with ovarian failure. There is also a supporting null mouse model. Sources: Expert list |
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