COL11A2

collagen type XI alpha 2 chain
OMIM: 120290, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green COL11A2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 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 2, MIM# 614524 Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Green COL11A2 in Mendeliome Version 1.3499	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome type 3 Deafness, autosomal dominant 13 MIM#601868 Deafness, autosomal recessive 53 MIM#609706 Fibrochondrogenesis 2 MIM#614524 Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840 Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150
Green COL11A2 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.53	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL11A2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 13, MIM# 601868 Deafness, autosomal recessive 53, MIM# 609706 Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840 Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Green COL11A2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Review Green UKGTN Radboud University Medical Center, Nijmegen NHS GMS Phenotypes Fibrochondrogenesis 2 614524? Otospondylomegaepiphyseal dysplasia 215150 Fibrochondrogenesis 2 614524 Weissenbacher-Zweymuller syndrome 277610 Stickler syndrome, type III 184840
Green COL11A2 in Stickler Syndrome Level 2: Ophthalmological disorders Version 1.12 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome type 3
Green COL11A2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fibrochondrogenesis 2, 614524 (3)
Green COL11A2 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.82	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 Deafness, autosomal dominant 13, MIM# 601868 Deafness, autosomal recessive 53, MIM# 609706
Green COL11A2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Otospondylomegaepiphyseal dysplasia
Green COL11A2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cleft palate OSMED STL3 Stickler syndrome, type III Non-ocular Stickler syndrome STICKLER SYNDROME, NONOCULAR TYPE
Green COL11A2 in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Fibrochondrogenesis 2, MIM# 614524 Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Green COL11A2 in Prepair 1000+ Level 2: Screening Version 2.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fibrochondrogenesis 2 MIM#614524
Green COL11A2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Deafness, autosomal recessive 53, MIM# 609706 Tags deafness
Green COL11A2 in Prepair 500+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Deafness, autosomal recessive 53 MIM#609706 Fibrochondrogenesis 2 MIM#614524 Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150