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| Microcephaly v2.10 | DMRTA2 | Zornitza Stark Classified gene: DMRTA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v2.10 | DMRTA2 | Zornitza Stark Gene: dmrta2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v2.9 | DMRTA2 | Zornitza Stark edited their review of gene: DMRTA2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v2.9 | DMRTA2 |
Zornitza Stark changed review comment from: Single family reported with three affected siblings and bi-allelic LoF variant. Newly published functional data but no further reports. Sources: Literature; to: Two families reported: PMID 26757254: two siblings from a Bedouin family, with hmz variant 1197delG. Both presented antenatally with abnormal imaging. Third sibling also likely affected in utero but not tested. PMID 40541527: reports 3 members of a consanguineous Pakistani family, born in different sibships. Hmz missense variant R116P identified. Clinical features included: global developmental delay, dysarthria, muscle atrophy, aggressive behavior, and peripheral neuropathy as well as microcephaly. Sources: Literature |
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| Microcephaly v2.0 | DMRTA2 | Gene migrated from ENSG00000142700 to ENSG00000142700 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.335 | DMRTA2 | Zornitza Stark Marked gene: DMRTA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.335 | DMRTA2 | Zornitza Stark Gene: dmrta2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.335 | DMRTA2 |
Zornitza Stark gene: DMRTA2 was added gene: DMRTA2 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: DMRTA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMRTA2 were set to 40541527; 26757254 Phenotypes for gene: DMRTA2 were set to Microcephaly, MONDO:0001149, DMRTA2-related Review for gene: DMRTA2 was set to RED Added comment: Single family reported with three affected siblings and bi-allelic LoF variant. Newly published functional data but no further reports. Sources: Literature |
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