Neurodegeneration with brain iron accumulation
Gene: DDHD1EnsemblGeneIds (GRCh38): ENSG00000100523
EnsemblGeneIds (GRCh37): ENSG00000100523
OMIM: 614603, Gene2Phenotype
DDHD1 is in 8 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Only single case reported with iron accumulationCreated: 20 Apr 2024, 4:43 a.m. | Last Modified: 20 Apr 2024, 4:43 a.m.
Panel Version: 0.34
Shekeeb Mohammad (Children's Hospital at Westmead)
Sources: LiteratureCreated: 14 Feb 2024, 3:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic paraplegia; sensory neuropathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- spastic paraplegia
- sensory neuropathy
- OMIM
- 614603
- Clinvar variants
- Variants in DDHD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ddhd1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ddhd1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shekeeb Mohammad (Children's Hospital at Westmead)gene: DDHD1 was added gene: DDHD1 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD1 were set to 28818478 Phenotypes for gene: DDHD1 were set to spastic paraplegia; sensory neuropathy Review for gene: DDHD1 was set to GREEN gene: DDHD1 was marked as current diagnostic