GFER

growth factor, augmenter of liver regeneration
OMIM: 600924
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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, Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076, Intellectual disability
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076