Clefting disorders
Gene: COL11A2
COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 14 panels
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Details
- Mode of Inheritance
- 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
- OMIM
- 120290
- Clinvar variants
- Variants in COL11A2
- Penetrance
- None
- Panels with this gene
-
- BabyScreen+ newborn screening
- Prepair 500+
- Stickler Syndrome
- Pierre Robin Sequence
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Deafness_Isolated
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Mendeliome
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL11A2 was added gene: COL11A2 was added to Clefting_GEL. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A2 were set to Cleft palate; OSMED; STL3; Stickler syndrome, type III; Non-ocular Stickler syndrome; STICKLER SYNDROME, NONOCULAR TYPE