Retinal disorders
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: 30 Jan 2023, 2:08 p.m. | Last Modified: 30 Jan 2023, 2:08 p.m.
Panel Version: 3.26
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, 5:14 p.m. | Last Modified: 4 Jan 2022, 5:14 p.m.
Panel Version: 2.240
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be reviewed by the GMS specialist group to see whether the phenotype is appropriate to be included in this panel.
This gene is Green on the Optic neuropathy panel (Version 2.29).Created: 27 Jan 2021, 12:59 p.m. | Last Modified: 27 Jan 2021, 12:59 p.m.
Panel Version: 2.144
At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Consider including here as well as the optic atrophy panel due to retinal features.
Sources: Expert listCreated: 15 Oct 2020, 12:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Publications
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
Tag for-review was removed from gene: SSBP1.
Source Expert Review Green was added to SSBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_MOI tag was added to gene: SSBP1.
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Gene: ssbp1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SSBP1.
Phenotypes for gene: SSBP1 were changed from Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
gene: SSBP1 was added gene: SSBP1 was added to Retinal disorders. Sources: 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; 31479473; 31550237; 31550240 Phenotypes for gene: SSBP1 were set to Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Review for gene: SSBP1 was set to GREEN