Unexplained kidney failure in young people
Gene: COL4A4Comment on mode of inheritance: Changing to BOTH monoallelic and biallelic, autosomal or pseudoautosomal because it is associated with two relevant disorders one which shows biallelic and one which shows monoallelic inheritance ( Alport syndrome 2, autosomal recessive is AR and Hematuria, familial benign is AD).Created: 26 Oct 2021, 10:44 a.m. | Last Modified: 26 Oct 2021, 10:44 a.m.
Panel Version: 1.98
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 11:43 a.m.
Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria,familial benign to Alport syndrome 2, autosomal recessive, OMIM:203780; Hematuria,familial benign, OMIM:141200
Mode of inheritance for gene: COL4A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL4A4 were set to 25381091
Publications for gene: COL4A4 were set to
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COL4A4 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for COL4A4 were set to Alport syndrome, autosomal recessive, 203780; Hematuria,familial benign
COL4A4 was added to Unexplained kidney failure in young peoplepanel. Source: Radboud University Medical Center, Nijmegen COL4A4 was added to Unexplained kidney failure in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services COL4A4 was added to Unexplained kidney failure in young peoplepanel. Source: UKGTN COL4A4 was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Green
COL4A4 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing
COL4A4 was created by sleigh