Clefting
Gene: ARHGAP29
Review of panel - sufficient evidence in literature to promote ARHGAP29 to GreenCreated: 26 Nov 2019, 12:11 p.m. | Last Modified: 26 Nov 2019, 12:11 p.m.
Panel Version: 1.59
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 confirmationCreated: 8 Feb 2017, 6:52 p.m.
Publications
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
Tag gene-checked tag was added to gene: ARHGAP29.
Gene: arhgap29 has been classified as Green List (High Evidence).
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
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Publications for ARHGAP29 were set to 23008150; 25704602; 27350171; 27369588; 27033726; 25512736; 27350171;28029220;27033726
This gene has been classified as Red List (Low Evidence).
Publications for ARHGAP29 were set to 23008150; 25704602; 27350171; 27369588; 27033726; 25512736 ; 27350171
Publications for ARHGAP29 were set to 23008150;25704602;27350171;27369588
ARHGAP29 was created by [email protected]
ARHGAP29 was added to Cleftingpanel. Sources: Research