1. Panels
  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. HPRT1
STRs in panel
Prev Next
Regions in panel
Prev Next

GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: HPRT1

Amber List (moderate evidence)
HPRT1 (hypoxanthine phosphoribosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 11 panels

1 review

Emily Jones (North Bristol NHS Trust)

I don't know

Presenting feature is usually hypotonia and delayed motor skills. Extrapyramidal features develop in first years of life and can include dystonia. If residual enzyme activity remains phenotype can be less severe. Mild dystonia may not clearly be dystonia. May be appropriate to include following clinical input.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

History Filter Activity

9 Jul 2019, Gel status: 2

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene HPRT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1

2 Apr 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to HPRT1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: HPRT1 was added gene: HPRT1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: HPRT1 was set to