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  3. TMEM260
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Congenital Heart Defect

Gene: TMEM260

Green List (high evidence)
TMEM260 (transmembrane protein 260)
EnsemblGeneIds (GRCh38): ENSG00000070269
EnsemblGeneIds (GRCh37): ENSG00000070269
OMIM: 617449, Gene2Phenotype
TMEM260 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven unrelated families with complex severe congenital heart disease. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Sources: Expert list
Created: 1 Mar 2020, 5:02 a.m. | Last Modified: 3 Dec 2021, 8:54 p.m.
Panel Version: 0.158

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Structural heart defects and renal anomalies syndrome, MIM# 617478

Publications

Created: 1 Mar 2020, 5:02 a.m.
Last Modified: 3 Dec 2021, 8:54 p.m.
Panel version: 0.157

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Structural heart defects and renal anomalies syndrome, MIM# 617478
OMIM
617449
Clinvar variants
Variants in TMEM260
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem260 has been classified as Green List (High Evidence).

1 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem260 has been classified as Amber List (Moderate Evidence).

1 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem260 has been classified as Amber List (Moderate Evidence).

1 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM260 was added gene: TMEM260 was added to Congenital Heart Defect. Sources: Expert list Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM260 were set to 28318500 Phenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, MIM# 617478 Review for gene: TMEM260 was set to AMBER