MYBPC1

myosin binding protein C1
OMIM: 160794, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green MYBPC1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 1B 614335 Lethal congenital contracture syndrome 4, MIM# 614915
Green MYBPC1 in Mendeliome Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 1B 614335 Lethal congenital contracture syndrome 4, MIM# 614915 Myopathy, congenital, with tremor MIM#618524
Amber MYBPC1 in Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Lethal congenital contracture syndrome 4, MIM# 614915
Green MYBPC1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other NHS GMS Phenotypes Congenital Myopathy 16 (MIM#618524)
Green MYBPC1 in Additional findings_Paediatric Level 2: Screening Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Arthrogryposis, distal, type 1B 614335 Lethal congenital contracture syndrome 4, MIM# 614915 Myopathy, congenital, with tremor MIM#618524
Green MYBPC1 in Fetal anomalies Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 1B 614335 Lethal congenital contracture syndrome 4, MIM# 614915
Red MYBPC1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Myopathy, congenital, with tremor MIM#618524 Lethal congenital contracture syndrome 4, MIM# 614915 Arthrogryposis, distal, type 1B 614335