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Intellectual disability syndromic and non-syndromic

Gene: DDHD2

Green List (high evidence)

DDHD2 (DDHD domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000085788
EnsemblGeneIds (GRCh37): ENSG00000085788
OMIM: 615003, Gene2Phenotype
DDHD2 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Complicated HSP which features ID as part of the phenotype.
Created: 9 Sep 2024, 11:06 a.m. | Last Modified: 9 Sep 2024, 11:06 a.m.
Panel Version: 0.6191

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hereditary spastic paraplegia 54 MONDO:0014018

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • hereditary spastic paraplegia 54 MONDO:0014018
OMIM
615003
Clinvar variants
Variants in DDHD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: DDHD2 were changed from hereditary spastic paraplegia 54 MONDO:0014018 to hereditary spastic paraplegia 54 MONDO:0014018

9 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ddhd2 has been classified as Green List (High Evidence).

9 Sep 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: DDHD2 were changed from to hereditary spastic paraplegia 54 MONDO:0014018

9 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DDHD2 were set to

9 Sep 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: DDHD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDHD2 was added gene: DDHD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDHD2 was set to Unknown