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Skeletal dysplasia

Region: ISCA-37434-Loss

1p36 terminal region (includes GABRD) Loss

Green List (high evidence)
Chromosome: 1
GRCh38 Position: 898703-6229913
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

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Details

ISCA ID
ISCA-37434-Loss
ISCA Region Name
1p36 terminal region (includes GABRD) Loss
Chromosome
1
GRCh38 Coordinates
898703-6229913
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
  • NHS GMS
Phenotypes
  • microcephaly
  • 1p36 deletion syndrome
  • large anterior fontanels
  • large, late-closing anterior fontanel
  • deep-set eyes
  • central nervous system anomalies
  • pointed chin
  • heart defects
  • poor/absent speech
  • hypotonia
  • brachycephaly
  • hearing impairment
  • 607872
  • growth impairment
  • flat nose
  • nasal bridge
  • mental retardation
  • seizures
  • epicanthus
  • microbrachycephaly
  • posteriorly rotated, low-set, abnormal ears
  • developmental delay
  • distinct dysmorphic features
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: ISCA-37434-Loss was added Region: ISCA-37434-Loss was added to Skeletal dysplasia. Sources: NHS GMS,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 18245432; 17918734; 22766398 Phenotypes for Region: ISCA-37434-Loss were set to microcephaly; 1p36 deletion syndrome; large anterior fontanels; large, late-closing anterior fontanel; deep-set eyes; central nervous system anomalies; pointed chin; heart defects; poor/absent speech; hypotonia; brachycephaly; hearing impairment; 607872; growth impairment; flat nose; nasal bridge; mental retardation; seizures; epicanthus; microbrachycephaly; posteriorly rotated, low-set, abnormal ears; developmental delay; distinct dysmorphic features