Congenital hypothyroidism

Region: ISCA-37404-Loss

15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss

Amber List (moderate evidence)

Chromosome: 15
GRCh38 Position: 22782170-28134729
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

1 review

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from green to amber as adviced by Nadia Schoenmakers (East of England GLH).
Created: 19 Jun 2019, 8:36 a.m.

Details

ISCA ID
ISCA-37404-Loss
ISCA Region Name
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
Chromosome
15
GRCh38 Coordinates
22782170-28134729
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 Amber
Phenotypes
  • microcephaly
  • 105834
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

19 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Region: isca-37404-loss has been classified as Amber List (Moderate Evidence).

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-37404-Loss was added Region: ISCA-37404-Loss was added to Congenital hypothyroidism or thyroid agenesis. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105834; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome