Mitochondrial disorders
Gene: ERAL1The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 2.109
Two individuals from the same small village with the same homozygous missense variant, C elegans data. Borderline Red/Amber.Created: 19 Mar 2020, 10:12 a.m. | Last Modified: 19 Mar 2020, 10:12 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 6, MIM# 617565
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Source Expert Review Red was added to ERAL1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
gene: ERAL1 was added gene: ERAL1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565