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  3. ARHGAP29
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Clefting

Gene: ARHGAP29

Green List (high evidence)
ARHGAP29 (Rho GTPase activating protein 29)
EnsemblGeneIds (GRCh38): ENSG00000137962
EnsemblGeneIds (GRCh37): ENSG00000137962
OMIM: 610496, Gene2Phenotype
ARHGAP29 is in 2 panels

3 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

Review of panel - sufficient evidence in literature to promote ARHGAP29 to Green
Created: 26 Nov 2019, 12:11 p.m. | Last Modified: 26 Nov 2019, 12:11 p.m.
Panel Version: 1.59
Created: 26 Nov 2019, 12:11 p.m.
Last Modified: 26 Nov 2019, 12:11 p.m.
Panel version: 1.59

Louise Daugherty (Genomics England Curator)

added new paper that provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting (PMID: 28029220 and 27033726)
Created: 20 Mar 2017, 11:10 a.m.
Comment on list classification: Changed status to red until confirmation
Created: 8 Feb 2017, 6:52 p.m.

Publications

Created: 8 Feb 2017, 5:13 p.m.

Panel version: 0.161

Philip Stanier (UCL-ICH)

Green List (high evidence)

Likely causal mutations are predominantly truncating rather than missense. There is evidence of incomplete penetrance.
Created: 14 Dec 2016, 3:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cleft lip with or without cleft palate

Publications

Created: 14 Dec 2016, 3:34 p.m.

Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • cleft lip with or without cleft palate
  • Cleft palate
Tags
gene-checked
OMIM
610496
Clinvar variants
Variants in ARHGAP29
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

3 May 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag gene-checked tag was added to gene: ARHGAP29.

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: arhgap29 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ARHGAP29. Panel: Clefting Phenotypes for gene ARHGAP29 were set to cleft lip with or without cleft palate, Cleft palate

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

20 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ARHGAP29 were set to 23008150; 25704602; 27350171; 27369588; 27033726; 25512736; 27350171;28029220;27033726

8 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ARHGAP29 were set to 23008150; 25704602; 27350171; 27369588; 27033726; 25512736 ; 27350171

16 Dec 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ARHGAP29 were set to 23008150;25704602;27350171;27369588

14 Dec 2016, Gel status: 0

Created

Philip Stanier (UCL-ICH)

ARHGAP29 was created by [email protected]

14 Dec 2016, Gel status: 0

Added New Source

Philip Stanier (UCL-ICH)

ARHGAP29 was added to Cleftingpanel. Sources: Research