ZMPSTE24

zinc metallopeptidase STE24
OMIM: 606480, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green ZMPSTE24 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 MONDO:0012074 Restrictive dermopathy, lethal, MIM# 275210 MONDO:0010143
Green ZMPSTE24 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 MONDO:0012074 Restrictive dermopathy, lethal, MIM# 275210 MONDO:0010143
Green ZMPSTE24 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 MONDO:0012074
Green ZMPSTE24 in Mendeliome Version 1.3519	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 MONDO:0012074 Restrictive dermopathy, lethal, MIM# 275210 MONDO:0010143
Green ZMPSTE24 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Restrictive dermopathy, lethal 275210 Mandibuloacral dysplasia with type B lipodystrophy 608612
Green ZMPSTE24 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.152 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612
Green ZMPSTE24 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 Restrictive dermopathy, lethal, 275210 (3)
Green ZMPSTE24 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 Restrictive dermopathy
Amber ZMPSTE24 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes RESTRICTIVE DERMOPATHY, LETHAL
Green ZMPSTE24 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 MONDO:0012074 Restrictive dermopathy, lethal, MIM# 275210 MONDO:0010143
Green ZMPSTE24 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 Restrictive dermopathy, lethal, MIM# 275210
Red ZMPSTE24 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Restrictive dermopathy 1, MIM# MIM:275210