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  2. Severe early-onset obesity
  3. BBS4
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Severe early-onset obesity

Gene: BBS4

Green List (high evidence)
BBS4 (Bardet-Biedl syndrome 4)
EnsemblGeneIds (GRCh38): ENSG00000140463
EnsemblGeneIds (GRCh37): ENSG00000140463
OMIM: 600374, Gene2Phenotype
BBS4 is in 21 panels

3 reviews

Ismaa Farooqi (University of Cambridge)

Green List (high evidence)

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

Created: 15 Aug 2019, 2:02 p.m.
Last Modified: 15 Aug 2019, 2:02 p.m.
Panel version: 1.22

Ayesha Ahmed (GEL)

Comment on list classification: expert opinion + published evidence
Created: 15 Aug 2016, 6:53 a.m.
Created: 15 Aug 2016, 6:53 a.m.

Panel version: 0.83

stephen o'rahilly (university of cambridge)

Green List (high evidence)

Created: 27 Dec 2015, 5:15 p.m.

Panel version: 0.50

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, 615982; Bardet-Biedl syndrome 4 to Obesity; Bardet-Biedl syndrome 4, OMIM:615982

15 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to BBS4. Added phenotypes Bardet-Biedl syndrome 4, 615982 for gene: BBS4

25 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.

18 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BBS4 were set to Obesity;Bardet-Biedl syndrome 4

15 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

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

15 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ayesha Ahmed (GEL)

Mode of inheritance for BBS4 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

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

15 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

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

18 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

BBS4 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory