Hereditary neuropathy or pain disorder
Gene: BCKDHB
At least six BCKDHB variants have been reported in five cases of OMIM:620698. This gene should be green on this panel, as the panel scope now includes complex phenotypes.Created: 13 May 2024, 8:57 a.m. | Last Modified: 13 May 2024, 8:57 a.m.
Panel Version: 4.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple syrup urine disease, type Ib,OMIM:620698
Publications
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 - Maple syrup urine diseaseCreated: 6 Dec 2019, 2:08 p.m. | Last Modified: 6 Dec 2019, 2:08 p.m.
Panel Version: 0.32
Comment on list classification: 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, 2:07 p.m. | Last Modified: 6 Dec 2019, 2:07 p.m.
Panel Version: 0.32
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, 9:08 p.m. | Last Modified: 17 Mar 2024, 9:08 p.m.
Panel Version: 3.83
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy
Publications
Tag Q2_24_promote_green tag was added to gene: BCKDHB. Tag Q2_24_NHS_review tag was added to gene: BCKDHB.
Gene: bckdhb has been classified as Amber List (Moderate Evidence).
gene: BCKDHB was added gene: BCKDHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHB were set to 18855118; 11180212 Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600; Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath; Maple Syrup Urine Disease