Hereditary Spastic Paraplegia - adult onset
Gene: DDHD1EnsemblGeneIds (GRCh38): ENSG00000100523
EnsemblGeneIds (GRCh37): ENSG00000100523
OMIM: 614603, Gene2Phenotype
DDHD1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least three unrelated families reported, onset in first and second decades.
Sources: Expert listCreated: 18 Apr 2020, 6:42 a.m. | Last Modified: 16 Mar 2021, 4:09 a.m.
Panel Version: 0.66
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 28, autosomal recessive, MIM# 609340
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Royal Melbourne Hospital
- Phenotypes
-
- Spastic paraplegia 28, autosomal recessive, 609340
- MONDO:0012256
- OMIM
- 614603
- Clinvar variants
- Variants in DDHD1
- 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: ddhd1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 609340 to Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DDHD1 were set to
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 Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive, 609340