Hereditary neuropathy or pain disorder
Gene: XPAEnsemblGeneIds (GRCh38): ENSG00000136936
EnsemblGeneIds (GRCh37): ENSG00000136936
OMIM: 611153, Gene2Phenotype
XPA is in 13 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Peripheral neuropathy is a reported feature in at least 8 unrelated families with xeroderma pigmentosum. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.Created: 6 Nov 2024, 11:56 a.m. | Last Modified: 6 Nov 2024, 11:56 a.m.
Panel Version: 6.114
Louise Daugherty (Genomics England Curator)
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: XP/de Sanctis-Cacchione syndrome - does only this form of XP have neurological features?Created: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Alexander Rossor (UCL Institute of Neurology)
PN seems otbe mostly associated with XPA- Aditional paper attached. Now that R78 inlcudes complex phenotypes should be includedCreated: 20 Oct 2024, 11:07 a.m. | Last Modified: 20 Oct 2024, 11:07 a.m.
Panel Version: 5.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- Phenotypes
-
- Xeroderma pigmentosum, group A, OMIM:278700
- Sensory-motor axonal peripheral neuropathy
- OMIM
- 611153
- Clinvar variants
- Variants in XPA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- DDG2P
- Structural eye disease
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: XPA. Tag Q3_24_NHS_review was removed from gene: XPA.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to XPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: XPA. Tag Q3_24_NHS_review tag was added to gene: XPA.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: XPA were set to 2168777
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: xpa has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: XPA were changed from Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy; Xeroderma pigmentosum, group A, 278700 to Xeroderma pigmentosum, group A, OMIM:278700; Sensory-motor axonal peripheral neuropathy
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to XPA. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: XPA was added gene: XPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPA were set to 2168777 Phenotypes for gene: XPA were set to Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy; Xeroderma pigmentosum, group A, 278700