Hereditary Neuropathy - complex
Gene: DDHD1EnsemblGeneIds (GRCh38): ENSG00000100523
EnsemblGeneIds (GRCh37): ENSG00000100523
OMIM: 614603, Gene2Phenotype
DDHD1 is in 8 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 23176821
3 individuals from 2 unrelated families with symptoms of spastic paraplegia and one individual with axonal neuropathy.Created: 14 Jun 2023, 4:03 a.m. | Last Modified: 14 Jun 2023, 4:03 a.m.
Panel Version: 0.166
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 28, autosomal recessive, MIM# 609340; MONDO:0012256
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy
- OMIM
- 614603
- Clinvar variants
- Variants in DDHD1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddhd1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddhd1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DDHD1 was added gene: DDHD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD1 were set to Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy