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Hereditary ataxia v1.326 DMXL2 Arina Puzriakova Mode of inheritance for gene: DMXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia v1.325 DMXL2 Arina Puzriakova Publications for gene: DMXL2 were set to 27657680; 22875945; 25248098
Hereditary ataxia v1.324 DMXL2 Arina Puzriakova Phenotypes for gene: DMXL2 were changed from ?Polyendocrine-polyneuropathy syndrome , OMIM:616113 to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
Hereditary ataxia v1.323 DMXL2 Arina Puzriakova Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; ORPHA90636; OMIM:612186 to ?Polyendocrine-polyneuropathy syndrome , OMIM:616113
Hereditary ataxia v1.322 DMXL2 Arina Puzriakova Classified gene: DMXL2 as Red List (low evidence)
Hereditary ataxia v1.322 DMXL2 Arina Puzriakova Added comment: Comment on list classification: Downgraded from Amber to Red. Ataxia (onset in adolescence) has only been reported in one consanguineous family to date (PMID: 25248098) and this finding has not since been replicated. Therefore demoting the gene rating, inline with review by Dmitrijs Rots.
Hereditary ataxia v1.322 DMXL2 Arina Puzriakova Gene: dmxl2 has been classified as Red List (Low Evidence).
Hereditary ataxia v1.313 DMXL2 Dmitrijs Rots reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia DMXL2 Ellen McDonagh classified DMXL2 as amber
Hereditary ataxia DMXL2 Ellen McDonagh added DMXL2 to panel
Hereditary ataxia DMXL2 Ellen McDonagh reviewed DMXL2