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Skeletal dysplasia

Gene: MASP1

Green List (high evidence)

MASP1 (mannan binding lectin serine peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000127241
EnsemblGeneIds (GRCh37): ENSG00000127241
OMIM: 600521, Gene2Phenotype
MASP1 is in 10 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

postnatal growth deficiency with craniosynostosis and radioulnar synostosis in 20-30%. >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome 1 - 257920

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Changing rating from red to green. >3 cases reported. Skeletal phenotype.
Created: 21 Nov 2019, 4:34 p.m. | Last Modified: 21 Nov 2019, 4:34 p.m.
Panel Version: 1.235
Associated with 3MC syndrome 1 #257920 (AR) in OMIM. Post natal growth retardation and radioulnar synostosis as well as craniosynostosis are listed as clinical features.

6 families and 5 variants in MASP1 reported in OMIM.

COLEC11 associated with 3MC syndrome 2 is already green on the panel.
Created: 21 Nov 2019, 4:33 p.m. | Last Modified: 21 Nov 2019, 4:33 p.m.
Panel Version: 1.233
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MASP1; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:36 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3MC syndrome 1 - 257920
OMIM
600521
Clinvar variants
Variants in MASP1
Penetrance
None
Panels with this gene

History Filter Activity

21 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: masp1 has been classified as Green List (High Evidence).

21 Nov 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: MASP1 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes 3MC syndrome 1 - 257920 for gene: MASP1

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: MASP1 was added gene: MASP1 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: MASP1 was set to