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Hearing loss

Gene: COL4A6

Green List (high evidence)

COL4A6 (collagen type IV alpha 6 chain)
EnsemblGeneIds (GRCh38): ENSG00000197565
EnsemblGeneIds (GRCh37): ENSG00000197565
OMIM: 303631, Gene2Phenotype
COL4A6 is in 6 panels

4 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: X-linked recessive = biallelic mutations in females.
Created: 17 Feb 2016, 12:57 p.m.

Jun Shen (Harvard Medical School)

Inheritance:X-linked recessive
Created: 9 Feb 2016, 10:05 a.m.
Inheritance:X-linked recessive Inheritance:X-linked recessive
Created: 7 Feb 2016, 8:55 a.m.

Mode of inheritance
Other

Phenotypes
#300914:?Deafness, X-linked 6[Deafness, sensorineural, bilateralCochlear malformationIncomplete separation of the cochlea from the internal auditory canal]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert review
Created: 31 Jan 2016, 8:05 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • #300914:?Deafness, X-linked 6
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
OMIM
303631
Clinvar variants
Variants in COL4A6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL4A6 were set to #300914:?Deafness, X-linked 6; diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL4A6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A6 were set to PMID: 23714752; 7592929; 7711741; 7972123; 8125972; 8175748; 8356449; 8661006; 9463311

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for COL4A6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert