Hereditary Neuropathy_CMT - isolated
Gene: NGFEnsemblGeneIds (GRCh38): ENSG00000134259
EnsemblGeneIds (GRCh37): ENSG00000134259
OMIM: 162030, Gene2Phenotype
NGF is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 10 families reported, functional data.Created: 10 May 2021, 11:07 a.m. | Last Modified: 10 May 2021, 11:07 a.m.
Panel Version: 0.135
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- HSAN/SFN
- Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654
- MONDO:0012092
- OMIM
- 162030
- Clinvar variants
- Variants in NGF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ngf has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NGF were changed from HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, 608654 to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NGF were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NGF was added gene: NGF was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGF were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, 608654