Childhood onset dystonia, chorea or related movement disorder
Gene: SPATA5L1Added new-gene-name tag, new approved HGNC gene symbol for SPATA5L1 is AFG2B.Created: 16 Oct 2023, 6:16 p.m. | Last Modified: 16 Oct 2023, 6:16 p.m.
Panel Version: 3.50
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 6:27 p.m. | Last Modified: 30 Jan 2023, 6:35 p.m.
Panel Version: 2.10
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (limited). There is enough evidence to support a gene-disease association, this gene should be rated Green.Created: 11 Jan 2022, 11:41 a.m. | Last Modified: 11 Jan 2022, 11:41 a.m.
Panel Version: 3.1491
47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.
~53% of patients had ID.
Sources: LiteratureCreated: 4 Dec 2021, 7:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: SPATA5L1.
Tag gene-checked tag was added to gene: SPATA5L1.
Tag Q1_22_rating was removed from gene: SPATA5L1.
Source Expert Review Green was added to SPATA5L1. Source NHS GMS was added to SPATA5L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: SPATA5L1 was added gene: SPATA5L1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature,Expert Review Amber Q1_22_rating tags were added to gene: SPATA5L1. Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 34626583 Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616