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Rare multisystem ciliopathy disorders

Gene: BBS7

Green List (high evidence)

BBS7 (Bardet-Biedl syndrome 7)
EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 20 panels

2 reviews

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).
Created: 4 Aug 2016, 3:50 p.m.

History Filter Activity

17 Feb 2017, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

BBS7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

4 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BBS7 were set to Bardet‐Biedl syndrome 7

4 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BBS7 were set to 12567324

4 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BBS7 was created by ellenmcdonagh

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BBS7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list