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BabyScreen+ newborn screening

Gene: COL11A2

Green List (high evidence)
COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants in this gene cause a range of phenotypes, most which lack specific treatment. Although not listed in OMIM, several unrelated families reported with Stickler syndrome type III, which can often lack ocular involvement (i.e. predominant deafness and arthropathy). The deafness associated with mono-allelic tends to be post-lingual, therefore this MOI not included.

Bi-allelic variants are associated with severe pre lingual deafness, which is likely to be detected by newborn screening, therefore included.
Created: 27 Oct 2022, 6:55 a.m. | Last Modified: 27 Oct 2022, 6:55 a.m.
Panel Version: 0.682

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 53, MIM# 609706

Created: 27 Oct 2022, 6:55 a.m.
Last Modified: 27 Oct 2022, 6:55 a.m.
Panel version: 0.685

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal recessive 53, MIM# 609706
Tags
deafness
OMIM
120290
Clinvar variants
Variants in COL11A2
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deafness tag was added to gene: COL11A2.

27 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col11a2 has been classified as Green List (High Evidence).

27 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col11a2 has been classified as Red List (Low Evidence).

27 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia to Deafness, autosomal recessive 53, MIM# 609706

27 Oct 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

27 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col11a2 has been classified as Red List (Low Evidence).

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,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 Otospondylomegaepiphyseal dysplasia