Skeletal dysplasiaGene: MASP1
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
3MC syndrome 1 - 257920
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.
Gene: masp1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: MASP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3MC syndrome 1 - 257920 for gene: MASP1
gene: MASP1 was added gene: MASP1 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: MASP1 was set to