Hereditary spastic paraplegia - childhood onset

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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Onset in childhood and adult
Created: 9 May 2019, 11:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

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: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 28, autosomal recessive, 609340

Arianna Tucci (Genomics England Curator)

Spastic paraplegia 28 onset in childhood/ adolescence
Created: 14 Jan 2019, 4:39 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
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 23176821

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to DDHD1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DDHD1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to DDHD1.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Spastic paraplegia 28 onset in

28 Jan 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DDHD1 were set to Tesson et al. (2012)

28 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 23176821 to Spastic paraplegia 28, autosomal recessive, 609340

28 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive to Spastic paraplegia 28, autosomal recessive, 23176821

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: DDHD1 was added gene: DDHD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD1 were set to Tesson et al. (2012) Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive