Ataxia and cerebellar anomalies - narrow panel
Gene: DMXL2Comment 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.Created: 3 Jul 2023, 4:44 p.m. | Last Modified: 3 Jul 2023, 4:44 p.m.
Panel Version: 4.16
No association with ataxia; only proven amber for hearing loss which has nothing to do with ataxia.Created: 8 Jan 2023, 3:27 p.m. | Last Modified: 8 Jan 2023, 3:27 p.m.
Panel Version: 3.21
Mode of inheritance for gene: DMXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Gene: dmxl2 has been classified as Red List (Low Evidence).
Publications for gene: DMXL2 were set to 25248098; 22875945; 27657680
Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; ORPHA90636; OMIM:612186 to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
Rebecca Foulger: Comment on list classification
gene: DMXL2 was added gene: DMXL2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DMXL2 were set to 25248098; 22875945; 27657680 Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; ORPHA90636; OMIM:612186