KLHL40

kelch like family member 40
OMIM: 615340, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green KLHL40 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Neuromuscular Superpanel	1 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 0.328	1 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 1.3795	1 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	1 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 1.112 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	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 0.111	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy
Green KLHL40 in Fetal anomalies Version 1.481	1 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 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 8, autosomal recessive MIM#615348
Red KLHL40 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348