Skeletal dysplasia
Region: ISCA-37434-Loss1p36 terminal region (includes GABRD) Loss
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 1:35 p.m. | Last Modified: 16 Mar 2022, 1:35 p.m.
Panel Version: 2.190
This region was part of an initial list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: ISCA-37434-Loss; Initial rating suggestion: none givenCreated: 6 Mar 2019, 1:54 p.m.
Required Overlap Percentage for ISCA-37434-Loss was changed from 80 to 60.
Source NHS GMS was added to Region: ISCA-37434-Loss.
Region: ISCA-37434-Loss was added Region: ISCA-37434-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432 Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872