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16p12.2 recurrent region (distal)(includes OTOA) |
- 30
Haplo
Score - 40
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-46297
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
The 16p12.2 proximal region contains a cluster of low copy repeats that mediate recurrent copy number changes through non-allelic homologous recombination. This review refers to CNVs involving the recurrent 16p12.2 distal and central breakpoints.
Note that genes used as landmarks are not necessarily causative of the phenotype(s) associated with the region.
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Dosage Sensitivity Unlikely
(40)
Related Links:
Last Evaluated:
11/03/2019
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- autosomal recessive nonsyndromic hearing loss 22 Monarch
HI Evidence Comments:
Deletions of this region have been reported in association with autosomal recessive nonsyndromic deafness (PMID:19888295; 20301607)(OMIM: 607039). The critical gene within this region is OTOA. The overall evidence that OTOA, when altered, causes autosomal recessive nonsyndromic deafness was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation.
Triplosensitivity (TS) Score Details
TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS Evidence Comments:
At this time there is no data to support that duplication of this region is clinically significant. A large-scale case control study (PMID: 21841781) comparing children, referred for clinical array testing due to developmental delay and other anomalies, and adult controls found that the duplication of this region was present at a similar frequency in patients (25/15,767; 0.158%) and controls (18/8,329; 0.216%).
