Skeletal dysplasia
Gene: COL11A1EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
Fibrochondrogenesis - biallelic null or chet null+missense which affect constitutively expressed exons. Carrier parents had mild clinical features such as myopia or hearing loss and were not considered to have Stickler.
Marshall syndrome (MIM#154780), AD - reports of AR as well
Stickler syndrome, type II (MIM#604841), AD - report of AR as well, almost all exclusive to variants affecting exon 9
?Deafness, autosomal dominant 37 - more reports in recent papers
Penetrance is full BUT expression highly variable in Stickler syndrome often resulting in atypical phenotype
LoF and suggested DN. Dominant negative has been suggested for Gly-X-Y variants (OMIM).Created: 1 Sep 2020, 12:48 a.m. | Last Modified: 1 Sep 2020, 12:48 a.m.
Panel Version: 0.4059
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Fibrochondrogenesis 1 (MIM#228520); Marshall syndrome (MIM#154780); Stickler syndrome, type II (MIM#604841); {Lumbar disc herniation, susceptibility to}, (MIM#603932); ?Deafness, autosomal dominant 37, (MIM#618533)
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- 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
- OMIM
- 120280
- Clinvar variants
- Variants in COL11A1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Stickler Syndrome
- Skeletal Dysplasia_Fetal
- Pierre Robin Sequence
- Deafness_Isolated
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Aortopathy_Connective Tissue Disorders
- Syndromic Retinopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL11A1 was added gene: COL11A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Eligibility statement prior genetic testing Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II 604841; Fibrochondrogenesis 1 228520; Marshall syndrome 154780