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Inborn errors of metabolism

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

1 review

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Coordinates and information checked against the original source panels.
Created: 8 Jan 2019, 12:08 p.m.
This region was sourced from ClinGen, transferred from the Mitochondrial disorders panel https://panelapp.genomicsengland.co.uk/panels/112/region/ISCA-37440-Loss/ and Undiagnosed metabolic disorders panel https://panelapp.genomicsengland.co.uk/panels/302/region/ISCA-37440-Loss/.
Created: 8 Jan 2019, 12:07 p.m.

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
Phenotypes
  • hyperphagia
  • lactic acidemia
  • mild/moderate mental retardation
  • Hypotonia-cystinuria syndrome (HCS)
  • 606407
  • failure to thrive
  • nephrolithiasis
  • rapid weight gain in late childhood
  • minor facial dysmorphism
  • growth hormone deficiency
  • facial dysmorphism
  • respiratory chain complex IV deficiency
  • cystinuria
  • neonatal seizures
  • 2p21 deletion syndrome
  • hypotonia
  • severe somatic and developmental delay
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: This region was sourced from C

8 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Region: isca-37440-loss has been classified as Green List (High Evidence).

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Region: ISCA-37440-Loss was added Region: ISCA-37440-Loss was added to Inborn errors of metabolism. Sources: 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 18234729; 11524703; 16385448 Phenotypes for Region: ISCA-37440-Loss were set to hyperphagia; lactic acidemia; mild/moderate mental retardation; Hypotonia-cystinuria syndrome (HCS); 606407; failure to thrive; nephrolithiasis; rapid weight gain in late childhood; minor facial dysmorphism; growth hormone deficiency; facial dysmorphism; respiratory chain complex IV deficiency; cystinuria; neonatal seizures; 2p21 deletion syndrome; hypotonia; severe somatic and developmental delay