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| Infertility and Recurrent Pregnancy Loss v1.42 | DHH | Chirag Patel Phenotypes for gene: DHH were changed from MONDO:0011766 to 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.41 | DHH |
Chirag Patel Source Literature was removed from DHH. Source Expert list was added to DHH. Phenotypes for gene: DHH were changed from 46XY gonadal dysgenesis with minifascicular neuropathy, MIM# 607080 to MONDO:0011766 |
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| Infertility and Recurrent Pregnancy Loss v0.36 | DHH | Zornitza Stark Marked gene: DHH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.36 | DHH | Zornitza Stark Gene: dhh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.36 | DHH | Zornitza Stark Classified gene: DHH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.36 | DHH | Zornitza Stark Gene: dhh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.29 | DHH |
Jasmine Chew gene: DHH was added gene: DHH was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHH were set to 25927242; 28589169; 28708305; 29471294; 40176231 Phenotypes for gene: DHH were set to 46XY gonadal dysgenesis with minifascicular neuropathy, MIM# 607080 Review for gene: DHH was set to GREEN Added comment: Literature in OMIM- PubMed: 25927242; 28589169; 28708305; 29471294- biallelic variants in affected women with primary amenorrhea, also one woman from PMID:29471294 had 2 uneventful pregnancies. New paper: PMID: 40176231-novel homozygous missense variant (P. Ser185Pro) in an Indian female with primary amenorrhea and severe motor and sensory neuropathy with Charcot's joints. Sources: Literature |
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