Craniosynostosis

Gene: MASP1

Red List (low evidence)

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

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome. Other syndromes have been included in this panel, where CSS is a very rarely reported feature.
Created: 3 Jul 2020, 3:57 a.m. | Last Modified: 3 Jul 2020, 3:57 a.m.
Panel Version: 2.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

CSS occurs in 20-30% of 3MC cases (which also includes COLEC11, MASP1). One case with MASP1 and CSS reported by Rooryck. 2 additional cases with abnormal skull shape reported by Urquhart et al. Not convinced meets green criteria based on published cases (AW) ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
3MC syndrome 1 - 257920

Eleanor Williams (Genomics England Curator)

I don't know

PMID: 21258343 - Rooryck et al 2011 - report 1 patient with a homozygous MASP1variant ( c.1489 C>T, p.His497Tyr) that segregated with 3MC syndrome in the family. The patient's features included craniosynostosis.

PMID: 26789649 - Urquhart et al 2016 - report two 3MC syndrome patients with homozygous variants in MASP1 (c.760A>T,p.(Leu 254*) and c.547G>T, p(.Val 183Leu) ) who have plagiocephaly and turricephaly respectively, but they note that craniosynostosis was not observed.
Created: 10 Nov 2019, 11:10 p.m. | Last Modified: 10 Nov 2019, 11:15 p.m.
Panel Version: 2.0
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; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes 3MC syndrome 1 257920 for gene: MASP1

5 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 Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: MASP1 was set to