ClinGen Dosage Sensitivity Curation Page

1p36 terminal region (includes GABRD)

Curation Status: Complete

Gene Information

Location Information

Evidence for Loss Phenotypes

Evidence for loss of function phenotype
PubMed ID Description
17918734 Describes a well defined syndrome and gives a good overview of previous publications. In this study 1500 cases were screened by microarray. The authors summarise the main clinical features observed, highlight candidate genes, the types of rearrangements observed and propose a variety of mechanisms for generating and stabilising terminal deletions.
18245432 Describes 60 patients with 1p36 deletion syndrome providing information on the common clinical findings associated with the disorder, as well as other aspects such as neurodevelopmental disability and other malformations frequently reported.
22766398 Identified smallest region of overlap and describe 2 patients who were found to have 'pure' 1p36 microduplication. The authors also discuss clinically relevant genes that map to the critical region.

Evidence for Triplosenstive Phenotype

NOTE:The loss of function score should be used to evaluate deletions, and the triplosensitivity score should be used to evaluated duplications. CNVs encompassing more than one gene must be evaluated in their totality (e.g. overall size, gain vs. loss, presence of other genes, etc). The rating of a single gene within the CNV should not necessarily be the only criteria by which one defines a clinical interpretation. Individual interpretations must take into account the phenotype described for the patient as well as issues of penetrance and expressivity of the disorder. ACMG has published guidelines for the characterization of postnatal CNVs, and these recommendations should be utilized (Genet Med (2011)13: 680-685). Exceptions to these interpretive correlations will occur, and clinical judgment should always be exercised.