Paediatric motor neuronopathies

Gene: AR

The 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 mechanism

Created: 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

Red List (low evidence)

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, 300633

Created: 18 Mar 2021, 2:55 p.m. | Last Modified: 18 Mar 2021, 2:55 p.m.

Panel Version: 1.36

Green List (high evidence)

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.

Green List (high evidence)

Disease onset in paediatric age group is very rare. Early disease onset is reported in late teenage/adolescent years

Created: 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 WGS

Created: 3 Nov 2016, 4:15 p.m.

Comment on list classification: Offered as diagnostic test on UKGTN. On G2P

Created: 2 Nov 2016, 1:20 p.m.