Severe microcephalyGene: SPATA5L1
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.
Created: 4 Dec 2021, 7:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
Variants in this GENE are reported as part of current diagnostic practice
gene: SPATA5L1 was added gene: SPATA5L1 was added to Severe microcephaly. Sources: Expert Review Amber,Literature 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