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 0.223	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 0.411 Component of the following Super Panels: Neuromuscular Superpanel	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 1.17	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 1.1891	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 0.285	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 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	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 0.109	review	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	review	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 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes RESTRICTIVE DERMOPATHY, LETHAL
Green ZMPSTE24 in Fetal anomalies Version 1.255	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Restrictive dermopathy, lethal, 275210 (3)
Red ZMPSTE24 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Restrictive dermopathy 1, MIM# MIM:275210