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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. TBX18
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: TBX18

Green List (high evidence)
TBX18 (T-box 18)
EnsemblGeneIds (GRCh38): ENSG00000112837
EnsemblGeneIds (GRCh37): ENSG00000112837
OMIM: 604613, Gene2Phenotype
TBX18 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families and some functional data.
Created: 15 Feb 2022, 7:59 a.m. | Last Modified: 15 Feb 2022, 7:59 a.m.
Panel Version: 0.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital anomalies of kidney and urinary tract 2, MIM# 143400

Publications

Created: 15 Feb 2022, 7:59 a.m.
Last Modified: 15 Feb 2022, 7:59 a.m.
Panel version: 0.97

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of kidney and urinary tract 2, MIM# 143400
OMIM
604613
Clinvar variants
Variants in TBX18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx18 has been classified as Green List (High Evidence).

15 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBX18 were changed from to Congenital anomalies of kidney and urinary tract 2, MIM# 143400

15 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBX18 were set to

15 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBX18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBX18 was added gene: TBX18 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX18 was set to Unknown