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Fetal anomalies

Gene: SPTBN5

Red List (low evidence)

SPTBN5 (spectrin beta, non-erythrocytic 5)
EnsemblGeneIds (GRCh38): ENSG00000137877
EnsemblGeneIds (GRCh37): ENSG00000137877
OMIM: 605916, Gene2Phenotype
SPTBN5 is in 3 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

Identified as a candidate gene in a sacral agenesis cohort.

PMID 32732226: compound het variants identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis.
Created: 13 Feb 2022, 11:58 p.m. | Last Modified: 13 Feb 2022, 11:58 p.m.
Panel Version: 0.3372

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sacral agenesis; congenital anomalies

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Sacral agenesis
  • Multicystic kidney
  • Oligohydramnios
OMIM
605916
Clinvar variants
Variants in SPTBN5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sptbn5 has been classified as Red List (Low Evidence).

14 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SPTBN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPTBN5 was added gene: SPTBN5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SPTBN5 was set to Unknown Publications for gene: SPTBN5 were set to 28007035; 32732226 Phenotypes for gene: SPTBN5 were set to Sacral agenesis; Multicystic kidney; Oligohydramnios