Cerebral Palsy
Gene: NDUFA12EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
Mitochondrial disorder causing motor dysfunction with learning difficulties (OMIM 618244). One case in cerebral palsy cohort.Created: 20 Sep 2021, 1:35 p.m. | Last Modified: 20 Sep 2021, 1:35 p.m.
Panel Version: 0.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 23 (OMIM 618244)
Publications
- PMID:34364746
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Spastic tetraparesis
- intellectual disability
- encephalopathy
- OMIM
- 614530
- Clinvar variants
- Variants in NDUFA12
- Penetrance
- None
- Publications
-
- PMID:34364746
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: NDUFA12 was added gene: NDUFA12 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to PMID:34364746 Phenotypes for gene: NDUFA12 were set to Spastic tetraparesis; intellectual disability; encephalopathy Review for gene: NDUFA12 was set to AMBER