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  2. Craniosynostosis
  3. MASP1
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Craniosynostosis

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 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome, MIM#257920

Created: 23 Oct 2020, 5:08 a.m.
Last Modified: 23 Oct 2020, 5:08 a.m.
Panel version: 1.3

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome
Sources: Literature
Created: 17 Jun 2020, 9:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome

Publications

Created: 17 Jun 2020, 9:58 a.m.

Panel version: 0.52

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3MC syndrome, MIM#257920
OMIM
600521
Clinvar variants
Variants in MASP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MASP1 were changed from 3MC syndrome to 3MC syndrome, MIM#257920

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

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

17 Jun 2020, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: MASP1 was added gene: MASP1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MASP1 were set to 7677137; 21258343 Phenotypes for gene: MASP1 were set to 3MC syndrome Penetrance for gene: MASP1 were set to Complete Review for gene: MASP1 was set to GREEN