TEST Undiagnosed metabolic disorders
STR: HTT_CAG

Chromosome: 4
GRCh38 Position: 3074877-3074939
Repeated Sequence: CAG
Normal Number of Repeats: < 40
Pathogenic Number of Repeats: = or > 40

HTT (huntingtin)
EnsemblGeneIds (GRCh38): ENSG00000197386
EnsemblGeneIds (GRCh37): ENSG00000197386
OMIM: 613004, Gene2Phenotype
HTT is in 0 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Sources: Expert list
Created: 20 Aug 2019, 1:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 20 Aug 2019, 1:16 p.m.

Panel version: 1.5

Details

Name

HTT_CAG

Chromosome

GRCh38 Coordinates

3074877-3074939

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert list

OMIM

613004

Clinvar variants

Variants in HTT

Penetrance

None

History Filter Activity

20 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

STR: HTT_CAG was added STR: HTT_CAG was added to TEST Undiagnosed metabolic disorders. Sources: Expert list Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for STR: HTT_CAG was set to GREEN

TEST Undiagnosed metabolic disorders STR: HTT_CAG