Mitochondrial disorders
Region: ISCA-37440-Loss2p21 region (includes PREPL and SLC3A1) Loss
GRCh38 Position: 44183133-44362502
Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
1 review
Eleanor Williams (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: 2.93
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
- 60%
- 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
Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)Required Overlap Percentage for ISCA-37440-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-37440-Loss was added Region: ISCA-37440-Loss was added to Mitochondrial disorders. 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