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Fetal anomalies

Gene: MYBPC1

Green List (high evidence)

MYBPC1 (myosin binding protein C, slow type)
EnsemblGeneIds (GRCh38): ENSG00000196091
EnsemblGeneIds (GRCh37): ENSG00000196091
OMIM: 160794, Gene2Phenotype
MYBPC1 is in 7 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Arthrogryposis, distal, type 1B is monoallelic
Lethal congenital contracture syndrome 4 is biallelic
Created: 31 Jan 2022, 1:21 a.m. | Last Modified: 31 Jan 2022, 1:21 a.m.
Panel Version: 0.2950

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 1B, MIM# 614335; Lethal congenital contracture syndrome 4, MIM# 614915

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both mono allelic and bi-allelic variants are associated with arthrogryposis, supportive zebrafish model.
Created: 14 Jun 2021, 7:12 a.m. | Last Modified: 14 Jun 2021, 7:12 a.m.
Panel Version: 0.280

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915

Publications

Details

Mode of Inheritance
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
OMIM
160794
Clinvar variants
Variants in MYBPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYBPC1 were set to

31 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: mybpc1 has been classified as Green List (High Evidence).

31 Jan 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYBPC1 was added gene: MYBPC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYBPC1 were set to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915