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Childhood onset dystonia, chorea or related movement disorder

Gene: HPRT1

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

7 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Created: 3 Mar 2022, 4:45 p.m.
Last Modified: 3 Mar 2022, 4:45 p.m.
Panel version: 1.217

Arina Puzriakova (Genomics England Curator)

Motor dysfunction is a feature of Lesch-Nyhan disease (OMIM:300322) and is a common initial finding during the first year of life. Although the phenotypes are variable, emergence of dystonic movements and associated disability can be severe and debilitating. Given that motor impairment is an early manifestation that may be evident prior to emergence of other features, inclusion of HPRT1 on this panel would be of value in some cases.

HPRT1 will be flagged for further GMS review to determine whether there is sufficient evidence to rate this gene as Green, despite the previous decision to make it Amber.
Created: 22 Nov 2021, 12:56 p.m. | Last Modified: 22 Nov 2021, 12:56 p.m.
Panel Version: 1.201
Created: 22 Nov 2021, 12:56 p.m.
Last Modified: 22 Nov 2021, 12:56 p.m.
Panel version: 1.201

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Dystonia and choreoathetosis are prominent features of the phenotype.
Created: 6 Sep 2020, 5:47 a.m. | Last Modified: 6 Sep 2020, 5:47 a.m.
Panel Version: 1.49

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Lesch-Nyhan syndrome, MIM# 300322

Publications

Created: 6 Sep 2020, 5:47 a.m.
Last Modified: 6 Sep 2020, 5:47 a.m.
Panel version: 1.49

Louise Daugherty (Genomics England Curator)

Confirmed Amber rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Associated with Lesch-Nyhan of which dystonia is part of.
Created: 12 Dec 2019, 3:44 p.m. | Last Modified: 12 Dec 2019, 3:44 p.m.
Panel Version: 0.258
Created: 12 Dec 2019, 3:44 p.m.
Last Modified: 12 Dec 2019, 3:44 p.m.
Panel version: 0.258

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. Clinical input required to promote to Green.
Created: 6 Dec 2019, 5:05 p.m. | Last Modified: 6 Dec 2019, 5:05 p.m.
Panel Version: 0.13
Created: 6 Dec 2019, 5:05 p.m.
Last Modified: 6 Dec 2019, 5:05 p.m.
Panel version: 0.13

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

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: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_expert_review was removed from gene: HPRT1. Tag Q4_21_rating was removed from gene: HPRT1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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

22 Nov 2021, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_expert_review tag was added to gene: HPRT1. Tag Q4_21_rating tag was added to gene: HPRT1.

22 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: HPRT1 were set to

22 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome, 300322 to Lesch-Nyhan syndrome, OMIM:300322; Dystonia

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: hprt1 has been classified as Amber List (Moderate Evidence).

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to HPRT1. 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

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: HPRT1 was added gene: HPRT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HPRT1 was set to