DNAJC12

DnaJ heat shock protein family (Hsp40) member C12
OMIM: 606060, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green DNAJC12 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Green DNAJC12 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Green DNAJC12 in Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384
Green DNAJC12 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Green DNAJC12 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Green DNAJC12 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive
Red DNAJC12 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Green DNAJC12 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Green DNAJC12 in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304
Green DNAJC12 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags treatable metabolic