GMS Musculoskeletal specialist test group Skeletal dysplasia
Region: ISCA-37434-Loss1p36 terminal region (includes GABRD) Loss
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 given
Sources: Expert listCreated: 6 Mar 2019, 2:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
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
Publications
GRCh38 position for ISCA-37434-Loss was changed from 898703-6229909 to 898703-6229913. Triplosensitivity Score for ISCA-37434-Loss was changed from None to . Source NHS GMS was added to Region: ISCA-37434-Loss.
Region: ISCA-37434-Loss was added Region: ISCA-37434-Loss was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: Expert list 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