Stickler Syndrome
Gene: COL11A1EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
PMID: 32578940 describes PTCs in exon 8 (paper annotates as exon 9 incorrectly) in biallelic individuals. Heterozygous individuals were not affectedCreated: 11 Apr 2023, 1:38 a.m. | Last Modified: 11 Apr 2023, 1:38 a.m.
Panel Version: 1.6
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type II, MIM# 604841, MONDO:0011493
Publications
- PMID: 32578940
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 16 Jan 2021, 11:17 p.m. | Last Modified: 16 Jan 2021, 11:17 p.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stickler syndrome, type II, MIM# 604841, MONDO:0011493
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Stickler syndrome, type II, MIM# 604841, MONDO:0011493
- OMIM
- 120280
- Clinvar variants
- Variants in COL11A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Stickler Syndrome
- Pierre Robin Sequence
- Deafness_Isolated
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- Cataract
- Aortopathy_Connective Tissue Disorders
- Syndromic Retinopathy
History Filter Activity
Set publications
Elena Savva (Victorian Clinical Genetics Services)Publications for gene: COL11A1 were set to
Set mode of inheritance
Elena Savva (Victorian Clinical Genetics Services)Mode of inheritance for gene: COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col11a1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL11A1 were changed from to Stickler syndrome, type II, MIM# 604841, MONDO:0011493
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)gene: COL11A1 was added gene: COL11A1 was added to Stickler Syndrome. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL11A1 was set to Unknown