Hereditary neuropathy or pain disorder
Gene: AGTPBP1
Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next major review.Created: 31 Jul 2023, 12:56 p.m. | Last Modified: 31 Jul 2023, 12:56 p.m.
Panel Version: 3.45
PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Five unrelated patients had (axonal) motor neuropathy. In addition, functional studies with mouse models have recapitulated the human phenotype.
This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).Created: 31 Jul 2023, 12:55 p.m. | Last Modified: 31 Jul 2023, 2:53 p.m.
Panel Version: 3.45
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
Publications
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, 1:31 p.m. | Last Modified: 6 Dec 2019, 1:31 p.m.
Panel Version: 0.21
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 / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID
Created: 5 Dec 2019, 10:50 a.m. | Last Modified: 6 Dec 2019, 1:30 p.m.
Panel Version: 0.21
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.
should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46Created: 17 Mar 2024, 9:06 p.m. | Last Modified: 17 Mar 2024, 9:06 p.m.
Panel Version: 3.83
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy
Publications
Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: AGTPBP1.
Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
gene: AGTPBP1 was added gene: AGTPBP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTPBP1 were set to 30420557 Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276