COL11A1

collagen type XI alpha 1 chain
OMIM: 120280, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green COL11A1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Fibrochondrogenesis 1, MIM# 228520 Marshall syndrome, MIM# 154780
Green COL11A1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Stickler syndrome, type II MIM#604841
Green COL11A1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL11A1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fibrochondrogenesis 1 (MIM#228520) Marshall syndrome (MIM#154780) Stickler syndrome, type II (MIM#604841)
Green COL11A1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL11A1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type II, MIM# 604841 Marshall syndrome, MIM# 154780
Green COL11A1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Emory Genetics Laboratory Phenotypes Stickler syndrome, type II 604841 Fibrochondrogenesis 1 228520 Marshall syndrome 154780
Green COL11A1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources RetNet Expert Review Green Phenotypes Stickler syndrome, type II, MIM#604841
Green COL11A1 in Stickler Syndrome Level 2: Ophthalmological disoders Version 1.8 Component of the following Super Panels: Retinal Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type II, MIM# 604841, MONDO:0011493
Green COL11A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fibrochondrogenesis 1, 228520 (3)
Green COL11A1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type II, MIM# 604841 Marshall syndrome, MIM# 154780
Green COL11A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Stickler syndrome
Green COL11A1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Victorian Clinical Genetics Services UKGTN Expert Review Green Phenotypes Orofacial Clefting with skeletal features Stickler Syndrome Cleft palate
Green COL11A1 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Fibrochondrogenesis 1, MIM# 228520 Marshall syndrome, MIM# 154780
Green COL11A1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fibrochondrogenesis 1, 228520 (3)
Green COL11A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Stickler syndrome, type II, MIM# 604841 Tags treatable ophthalmological