Familial non syndromic congenital heart disease
Region: ISCA-37434-Loss1p36 terminal region (includes GABRD) Loss
GRCh38 Position: 898703-6229913
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
1 review
Arina Puzriakova (Genomics England Curator)
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: 1.74
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
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- ClinGen
- 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
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)Required Overlap Percentage for ISCA-37434-Loss was changed from 80 to 60.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)Region: ISCA-37434-Loss was added Region: ISCA-37434-Loss was added to Familial non syndromic congenital heart disease. 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