Likely inborn error of metabolism - targeted testing not possible
Gene: SSBP1The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
Comment on mode of inheritance: The moi for this gene should be changed to BOTH monoallelic and Biallelic as PMID: 34905022 & 3155024 report two cases of SSBP1-disease associated with biallelic SSBP1 variants. The variant c.380G>A p.(Arg127Gln)(MAF of 0.00004) was found with c.394A>G p.(Ile132Val)(PMID: 34905022), which had previously been found as a homozygote in a single case (PMID: 31550240).
Created: 4 Jan 2022, 4:04 p.m. | Last Modified: 4 Jan 2022, 5:12 p.m.
Panel Version: 2.212
Green review on panel - Optic neuropathy (Version 2.0) and review from relevant expert on Mitochondrial DNA maintenance disorder (Version 1.0)Created: 18 Nov 2019, 4:03 p.m. | Last Modified: 18 Nov 2019, 4:03 p.m.
Panel Version: 1.406
Tag Q1_22_MOI was removed from gene: SSBP1.
Source NHS GMS was added to SSBP1. Mode of inheritance for gene SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31550240; 31550237; 30412255; 31479473; 31479473
Mode of inheritance for gene: SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q1_22_MOI tag was added to gene: SSBP1.
Publications for gene: SSBP1 were set to 31298765
Phenotypes for gene: SSBP1 were changed from to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
gene: SSBP1 was added gene: SSBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SSBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SSBP1 were set to 31298765