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Gene: SDCCAG8

Green List (high evidence)

SDCCAG8 (serologically defined colon cancer antigen 8)
EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 13 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

1. Bardet-Biedl syndrome 16 (MIM# 615993)
- Well-established gene-disease association with BBS, syndrome associated with retinal degeneration, obesity, Early-onset severe renal disease, and cognitive impairment. Polydactyly is typically absent.

2. Senior-Loken syndrome 7 (MIM# 613615)
- Patients with develop RP and nephronophthisis, the most frequent genetic cause of end-stage renal disease (ESRD) in children and adolescents (PMID: 22819833)
- PMID: 20835237: Siblings from consanguineous parents with early-onset RP (blind at 7yo) and nephronophthisis (end-stage renal failure at 4yo). Additional individuals reported with Senior-Loken syndrome 7 and additional BBS-like features. Alls individual are homozygous or biallelic for truncating SDCCAG8 variants
- PMID: 32432520: 10 year-old female from non-consanguineous parents (Ashkenazi and Sephardic Jewish, respectively) with moderately severe rod-cone retinal dystrophy and end-stage renal failure. Compound heterozygous for two variants in the SDCCAG8 gene (c.740+356C > T; p.? and c.1324dupC; p.(Gln442Profs*22))

No clear genotype- phenotype correlation. DECIPHER: Only pathogenic LoF variants have been reported in this gene


MIM# 613615 not previously reviewed by Mackenzie's Mission
Created: 13 Jan 2025, 10:15 p.m. | Last Modified: 13 Jan 2025, 10:15 p.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 16 (MIM# 615993); Senior-Loken syndrome 7 (MIM# 613615)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sdccag8 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, 615993 (3) to Bardet-Biedl syndrome 16 (MIM# 615993); Senior-Loken syndrome 7 (MIM# 613615)

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SDCCAG8 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Bardet-Biedl syndrome 16, 615993 (3) for gene: SDCCAG8

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SDCCAG8 was added gene: SDCCAG8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)