PROSC:Ensemblv90

proline synthetase co-transcribed (bacterial homolog)
OMIM: 604436, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PROSC in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
Green PROSC in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
Green PROSC in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
Green PROSC in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent , MIM#617290 Tags treatable metabolic
Green PROSC in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent, MIM#617290
Green PROSC in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pyridoxine-dependent epilepsy MONDO:0009945 Disorders of pyridoxine metabolism