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Severe microcephaly

Gene: SPATA5L1

Amber List (moderate evidence)

SPATA5L1 (spermatogenesis associated 5 like 1)
EnsemblGeneIds (GRCh38): ENSG00000171763
EnsemblGeneIds (GRCh37): ENSG00000171763
SPATA5L1 is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: Literature
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Tags
Q1_22_rating
Clinvar variants
Variants in SPATA5L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jan 2022, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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