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  2. Renal and urinary tract disorders
  3. FRAS1
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Renal and urinary tract disorders

Gene: FRAS1

Green List (high evidence)
FRAS1 (Fraser extracellular matrix complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 13 panels

5 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 4 Aug 2016, 12:35 p.m.
Created: 4 Aug 2016, 12:35 p.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.191

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Green List (high evidence)

Several publications show billalelic mutations in renal agenesis/Fraser syndrome. Also convincing mouse models available with renal agenesis and biallelic Fras1 mutations.
Created: 22 Apr 2016, 11:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 22 Apr 2016, 11:35 a.m.

Panel version: Imported from CAKUT panel version 0.84

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green as two reviewers in agreement. Confirmed DD gene for Fraser syndrome.
Created: 29 Mar 2016, 10:43 a.m.
Created: 29 Mar 2016, 10:43 a.m.

Panel version: Imported from CAKUT panel version 0.35

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 22 Feb 2016, 10:53 p.m.

Panel version: Imported from CAKUT panel version 0.8

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Fraser syndrome 219000 for gene: FRAS1

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: FRAS1 was added gene: FRAS1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRAS1 were set to Fraser syndrome