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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak.
Created: 6 May 2022, 8:08 a.m. | Last Modified: 6 May 2022, 8:08 a.m.
Panel Version: 0.13903

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 54, autosomal recessive, MIM# 615033

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 54, autosomal recessive, MIM# 615033
OMIM
615003
Clinvar variants
Variants in DDHD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DDHD2 were changed from to Spastic paraplegia 54, autosomal recessive, MIM# 615033

6 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DDHD2 were set to

6 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DDHD2 was set to Unknown