Genomics England

GFER

growth factor, augmenter of liver regeneration

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
Green in Congenital muscular dystrophy and congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R432 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076, Intellectual disability
Green in Likely inborn error of metabolism 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 5.6	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))
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	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
Green in Possible mitochondrial disorder - nuclear genes 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