Likely inborn error of metabolism - targeted testing not possible
Gene: GFERComment on list classification: Carl Fratter also confirmed this should be green.Created: 7 Mar 2016, 6:01 p.m.
Source NHS GMS was added to GFER. Source London North GLH was added to GFER.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFER Publications for gene GFER were changed from 19409522; PMID: 26018198 to 27604308
gene: GFER was added gene: GFER was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522; PMID: 26018198 Phenotypes for gene: GFER were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076