GTF2IRD2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GTF2IRD2 (HGNC:30775) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- GTF2I repeat domain containing 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ37938, GTF2IRD2A
- %HI
- 85.33(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.17(Read more about gnomAD LOEUF score)
- Cytoband
- 7q11.23
- Genomic Coordinates
-
GRCh37/hg19: chr7:74210490-74267901 NCBI Ensembl UCSC GRCh38/hg38: chr7:74796151-74851605 NCBI Ensembl UCSC - MANE Select Transcript
- NM_173537.5 ENST00000451013.7 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-13158
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
12/04/2013
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
While haploinsufficiency for GTF2IRD2 alone has not been demonstrated. Deletions involving the 7q11.23 region cause the contiguous gene deletion disorder, Williams-Beuren syndrome (WBS) (MIM #194050). One study (Porter et al. 2012) reported that deletions of this region in WBS patients variably include the GTF2IRD2 gene. Porter MA et al. (2012) (PMID:23118870), performed detailed, neuropsychological profiling in a cohort of patients with typical WBS (1.6 Mb) deletions within 7q11.23 (n=43) and what the authors described as larger, atypical deletions (1.8Mb) including GTF2IRD2 (n=10). The patients with the larger deletions showed "significantly more [cognitive impairment] in the areas of spatial functioning, social reasoning, and cognitive flexibility (a form of executive functioning). They also displayed significantly more obsessions and externalizing behaviours, a likely manifestation of poor cognitive flexibility and executive dysfunction." The authors report that NCF1 and GTF2IRD2 are the only two additional genes deleted in the 1.8Mb deletion, and note that NCF1 "encodes a component of neutrophil NADPH oxidase, which when mutated causes an immunodeficiency condition with no overt neurological phenotype;" they go on to infer that haploinsufficiency of GTF2IRD2 is the more likely explanation of the neuropsychological differences noted in the individuals with larger deletions. At this time, focal deletions of this gene have not been associated with any recognizable clinical phenotype.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)