Corneal Dystrophy
STR: FECD3GRCh37 Position: 53253387-53253458
GRCh38 Position: 55586156-55586227
Repeated Sequence: CTG
Normal Number of Repeats: < 31
Pathogenic Number of Repeats: = or > 51
TCF4 (transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
NG_011716.2:g.54765TGC[X]
Intronic CTG repeat expansion, with RNA nuclear foci expected to be the mechanism of disease. The expanded CTG 18.1 allele conferring significant risk for FECD (>30-fold increase). The expanded allele cosegregates with the trait with complete penetrance in a majority of families, but we also document cases of incomplete penetrance.
Normal: 5-31 repeats
Pathogenic: >50 repeats
Sources: Expert listCreated: 28 Aug 2021, 8:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, Fuchs endothelial, 3 MIM#613267
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- FECD3
- Chromosome
- 18
- GRCh37 Coordinates
- 53253387-53253458
- GRCh38 Coordinates
- 55586156-55586227
- Repeated Sequence
- CTG
- Normal Number of Repeats: <
- 31
- Pathogenic Number of Repeats: = or >
- 51
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Corneal dystrophy, Fuchs endothelial, 3 MIM#613267
- OMIM
- 602272
- Clinvar variants
- Variants in TCF4
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fecd3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fecd3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: FECD3 was added STR: FECD3 was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for STR: FECD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FECD3 were set to 25722209; 24255041 Phenotypes for STR: FECD3 were set to Corneal dystrophy, Fuchs endothelial, 3 MIM#613267 Review for STR: FECD3 was set to GREEN STR: FECD3 was marked as clinically relevant