MOCS1

molybdenum cofactor synthesis 1
OMIM: 603707, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Amber MOCS1 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.99 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Molybdenum cofactor deficiency A, MIM# 252150
Amber MOCS1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Molybdenum cofactor deficiency A MIM#252150
Green MOCS1 in Mendeliome Version 1.3512	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency A, MIM# 252150 Tags treatable
Green MOCS1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Molybdenum cofactor deficiency A, MIM# 252150 Tags treatable
Green MOCS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Molybdenum cofactor deficiency A, MIM# 252150 Tags treatable
Green MOCS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency A, 252150 (3)
Green MOCS1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Molybdenum cofactor deficiency
Green MOCS1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.57 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Molybdenum cofactor deficiency A MIM#252150 Disorders of molybdenum cofactor metabolism Tags treatable
Green MOCS1 in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.51 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of molybdenum cofactor metabolism sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643
Green MOCS1 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Molybdenum cofactor deficiency A, MIM# 252150
Green MOCS1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency A, MIM#252150
Green MOCS1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Molybdenum cofactor deficiency, MIM#252150 Tags treatable metabolic
Green MOCS1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency A (MIM#252150)