Aminoacidopathy
Gene: DNAJC12EnsemblGeneIds (GRCh38): ENSG00000108176
EnsemblGeneIds (GRCh37): ENSG00000108176
OMIM: 606060, Gene2Phenotype
DNAJC12 is in 10 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive by ClinGen Aminoacidopathy GCEP on 11/01/2021 - https://search.clinicalgenome.org/CCID:004679
Biochemical abnormalities have been reported in at least 7 probands.
Sources: ClinGenCreated: 24 May 2024, 12:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304
- OMIM
- 606060
- Clinvar variants
- Variants in DNAJC12
- 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: dnajc12 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnajc12 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: DNAJC12 was added gene: DNAJC12 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987 Phenotypes for gene: DNAJC12 were set to hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304 Review for gene: DNAJC12 was set to GREEN