MASP1

mannan binding lectin serine peptidase 1
OMIM: 600521, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green MASP1 in Blepharophimosis Level 2: Ophthalmological disorders Version 1.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3MC syndrome 1, MIM# 257920 MONDO:0009770
Green MASP1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3MC syndrome, MIM#257920
Green MASP1 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3MC syndrome 1, MIM# 257920 MONDO:0009770
Green MASP1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes 3MC syndrome 1, MIM# 257920
Green MASP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 3MC syndrome 1, MIM# 257920 MONDO:0009770
Green MASP1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3MC syndrome 1 - 257920
Green MASP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3MC syndrome 1, 257920 (3)
Green MASP1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC syndrome 1, MIM# 257920 MONDO:0009770
Green MASP1 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes 3MC syndrome 1, MIM# 257920 MONDO:0009770
Green MASP1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3MC syndrome 1, MIM# 257920
Green MASP1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3MC syndrome 1, 257920 (3)