GT/TP identifiers for the NHSE Digital Genomic Test Service are temporarily visible in PanelApp but are not yet in use in Genomics England systems

ENTPD1

ectonucleoside triphosphate diphosphohydrolase 1
OMIM: 601752, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ENTPD1 in White matter disorders and cerebral calcification - childhood onset Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683
Green ENTPD1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683
Green ENTPD1 in Hereditary spastic paraplegia, childhood onset Level 2: Neurology Version 9.11 Latest signed off version: v9.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert list Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683
Amber ENTPD1 in Hereditary spastic paraplegia, adult onset Level 2: Neurology Version 6.14 Latest signed off version: v6.13 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH South West GLH Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683
Red ENTPD1 in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.5 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683
Red ENTPD1 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green ENTPD1 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.72 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683
Green ENTPD1 in Intellectual disability Level 2: Developmental disorders Version 11.17 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683