Genes in panel
Prev Next
Regions in panel

Intellectual disability

Region: ISCA-37440-Loss

2p21 region (includes PREPL and SLC3A1) Loss

Green List (high evidence)

Chromosome: 2
GRCh38 Position: 44183133-44362502
Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

0 reviews

Details

ISCA ID
ISCA-37440-Loss
ISCA Region Name
2p21 region (includes PREPL and SLC3A1) Loss
Chromosome
2
GRCh38 Coordinates
44183133-44362502
Haploinsufficiency Score
Gene associated with autosomal recessive phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • mild/moderate mental retardation
  • facial dysmorphism
  • Hypotonia-cystinuria syndrome (HCS)
  • 2p21 deletion syndrome
  • rapid weight gain in late childhood
  • failure to thrive
  • growth hormone deficiency
  • 606407
  • lactic acidemia
  • respiratory chain complex IV deficiency
  • hyperphagia
  • minor facial dysmorphism
  • severe somatic and developmental delay
  • nephrolithiasis
  • cystinuria
  • neonatal seizures
  • hypotonia
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37440-Loss was added Region: ISCA-37440-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448 Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia