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  2. Adult onset hereditary spastic paraplegia
  3. DDHD1
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Adult onset hereditary spastic paraplegia

Gene: DDHD1

Green List (high evidence)
DDHD1 (DDHD domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000100523
EnsemblGeneIds (GRCh37): ENSG00000100523
OMIM: 614603, Gene2Phenotype
DDHD1 is in 7 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Onset in childhood and adult.
Created: 9 May 2019, 11:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 May 2019, 11:15 a.m.

Panel version: 0.52

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.
Created: 25 Apr 2019, 1:37 p.m.

Panel version: 0.53

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

mutations published in 3 unrelated families from different ethnic populations, In Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 28, autosomal recessive, 609340

Created: 25 Apr 2019, 1:22 p.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 28, autosomal recessive, 609340
OMIM
614603
Clinvar variants
Variants in DDHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DDHD1 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to DDHD1.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to DDHD1. Mode of inheritance for gene DDHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1 Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DDHD1.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DDHD1 was added gene: DDHD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DDHD1 was set to