Paediatric motor neuronopathies
Gene: ARThe rating of this gene has been updated to Red and the mode of inheritance set to 'Other' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:41 p.m. | Last Modified: 1 Feb 2023, 12:41 p.m.
Panel Version: 2.5
Comment on mode of inheritance: MOI should be changed to 'Other' to maintain consistency with other panels for this phenotype due to lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 11 Nov 2021, 4:44 p.m. | Last Modified: 11 Nov 2021, 4:44 p.m.
Panel Version: 1.72
Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene should be downgraded to Red. The disease-relevant STR (i.e. AR_CAG) has been added to this panel with the recommendation of a Green classification at the next GMS review, which is the appropriate route for detecting cases.Created: 1 Jul 2021, 1:21 p.m. | Last Modified: 1 Jul 2021, 1:23 p.m.
Panel Version: 1.63
Only STR expansion causes Kennedy disease; point mutation analysis will discover only androgen insensitivity.Created: 8 Jun 2021, 7:04 a.m. | Last Modified: 8 Jun 2021, 7:04 a.m.
Panel Version: 1.62
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
SBMA
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Comment on phenotypes: Previous phenotypes:
Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633Created: 18 Mar 2021, 2:55 p.m. | Last Modified: 18 Mar 2021, 2:55 p.m.
Panel Version: 1.36
This is rare in children. Although teenage onset has been reported.
Created: 2 Mar 2017, 3:29 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
bulbar symptoms, fasciculations, anterior horn cell involvement, gynaecomastia ataxia, endocrine involvement
Added 'currently-NGS-unreportable' tag.Created: 30 Nov 2016, 5:07 p.m.
Disease onset in paediatric age group is very rare. Early disease onset is reported in late teenage/adolescent yearsCreated: 26 Nov 2016, 5:19 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of pathogenicity
Other
Comment when marking as ready: Won't be picked up on our current WGSCreated: 3 Nov 2016, 4:15 p.m.
Comment on list classification: Offered as diagnostic test on UKGTN. On G2PCreated: 2 Nov 2016, 1:20 p.m.
Tag Q2_21_rating was removed from gene: AR. Tag Q2_21_MOI was removed from gene: AR.
Source NHS GMS was added to AR. Source Expert Review Red was added to AR. Mode of inheritance for gene AR was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q2_21_MOI tag was added to gene: AR.
Mode of inheritance for gene: AR was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AR were set to
Tag Q2_21_rating tag was added to gene: AR.
Gene: ar has been classified as Green List (High Evidence).
Phenotypes for gene: AR were changed from Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Mode of pathogenicity for AR was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Mode of inheritance for AR was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
AR was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen
AR was added to Paediatric motor neuronopathiespanel. Sources: UKGTN