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Corneal dystrophy

STR: TCF4_CTG

Red List (low evidence)
Chromosome: 18
GRCh38 Position: 55586155-55586227
Repeated Sequence: CTG
Normal Number of Repeats: < 31
Pathogenic Number of Repeats: = or > 50

TCF4 (transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 0 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

TCF4 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence.

TCF4_CTG is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4

TCF4_CTG is on https://stripy.org/database

TCF4_CTG is on DRAGON 4.02.

The coordinates of the sequence repeats shown above were obtained from DRAGON 4.02
The coordinates https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 and https://stripy.org/database were the same as above.

The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://stripy.org/database

There is enough evidence for this STR to be green on this panel.

This STR has not been approved by NHS STR working group and is not NGS Not Validated
Sources: Literature
Created: 1 Apr 2025, 3:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267; corneal dystrophy, Fuchs endothelial, 3, MONDO:0013203

Publications

Created: 1 Apr 2025, 3:06 p.m.

Panel version: 3.13

Details

Name
TCF4_CTG
Chromosome
18
GRCh38 Coordinates
55586155-55586227
Repeated Sequence
CTG
Normal Number of Repeats: <
31
Pathogenic Number of Repeats: = or >
50
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267
  • corneal dystrophy, Fuchs endothelial, 3, MONDO:0013203
Tags
STR NGS Not Validated
OMIM
602272
Clinvar variants
Variants in TCF4
Penetrance
None
Publications

History Filter Activity

1 Apr 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

STR: TCF4_CTG was added STR: TCF4_CTG was added to Corneal dystrophy. Sources: Literature STR, NGS Not Validated tags were added to STR: TCF4_CTG. Mode of inheritance for STR: TCF4_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: TCF4_CTG were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321 Phenotypes for STR: TCF4_CTG were set to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267; corneal dystrophy, Fuchs endothelial, 3, MONDO:0013203 Review for STR: TCF4_CTG was set to GREEN