Cerebral Palsy
Gene: DDHD2EnsemblGeneIds (GRCh38): ENSG00000085788
EnsemblGeneIds (GRCh37): ENSG00000085788
OMIM: 615003, Gene2Phenotype
DDHD2 is in 9 panels
1 review
Danielle Ariti (University of Melbourne)
Two individuals reported in CP cohort. Phenotype-Spastic diplegia, and ID.
Multiple reports of CP-mimic patients with global developmental delay and non-progressive spastic gait.
SPG54 individuals display CP-like phenotype such as intellectual disability, early-onset spasticity of the lower limbs and delayed psychomotor development.
Sources: Expert listCreated: 21 Sep 2021, 3:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral Palsy; Spastic paraplegia 54, autosomal recessive MIM# 615033
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral Palsy
- Spastic paraplegia 54, autosomal recessive MIM# 615033
- OMIM
- 615003
- Clinvar variants
- Variants in DDHD2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddhd2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddhd2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: DDHD2 was added gene: DDHD2 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD2 were set to 30705080; 34077496; 34321325 Phenotypes for gene: DDHD2 were set to Cerebral Palsy; Spastic paraplegia 54, autosomal recessive MIM# 615033 Review for gene: DDHD2 was set to GREEN