KLHL40

kelch like family member 40
OMIM: 615340, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green KLHL40 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags founder
Amber KLHL40 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348
Green KLHL40 in Mendeliome Version 1.2302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags founder
Green KLHL40 in Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags founder
Green KLHL40 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348
Green KLHL40 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 Nemaline myopathy 8, autosomal recessive, 615348 (3)
Green KLHL40 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy
Green KLHL40 in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348
Green KLHL40 in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 8, autosomal recessive, 615348 (3)
Red KLHL40 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348