Hereditary Spastic Paraplegia - adult onset

Gene: DDHD1

Green List (high evidence)

DDHD1 (DDHD domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000100523
EnsemblGeneIds (GRCh37): ENSG00000100523
OMIM: 614603, Gene2Phenotype
DDHD1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported, onset in first and second decades.
Sources: Expert list
Created: 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

16 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddhd1 has been classified as Green List (High Evidence).

16 Mar 2021, Gel status: 3

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

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DDHD1 were set to

31 Dec 2019, Gel status: 3

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