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Retinal disorders

Gene: SSBP1

Green List (high evidence)

SSBP1 (single stranded DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000106028
EnsemblGeneIds (GRCh37): ENSG00000106028
OMIM: 600439, Gene2Phenotype
SSBP1 is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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 list
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Tags
Q1_22_MOI
OMIM
600439
Clinvar variants
Variants in SSBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: SSBP1.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to SSBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jan 2022, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: SSBP1.

4 Jan 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240

27 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ssbp1 has been classified as Amber List (Moderate Evidence).

27 Jan 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: SSBP1.

27 Jan 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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