GFER

growth factor, augmenter of liver regeneration
OMIM: 600924
PanelMode of inheritanceDetails
5 panels
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
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:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
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 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076