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Fetal anomalies

Gene: LTBP4

Green List (high evidence)

LTBP4 (latent transforming growth factor beta binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000090006
EnsemblGeneIds (GRCh37): ENSG00000090006
OMIM: 604710, Gene2Phenotype
LTBP4 is in 10 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

- 9 families with cutis laxa, either homozygotes or cHets.
- all PTVs except 1 homozygous missense
- Most LTBP4 mutation positive patients (11/13) had generalized moderate to severe cutis laxa, skin was hyperextensible, or appeared translucent with a prominent venous pattern (3/9), few patients had thin and slowly growing hair.

Additionally, more than half of all patients had inguinal and diaphragmatic hernias (5/9) and bladder diverticula (5/9).
Created: 14 Nov 2021, 10:44 p.m. | Last Modified: 14 Nov 2021, 10:44 p.m.
Panel Version: 0.426

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IC (MIM#613177)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cutis laxa, autosomal recessive, type IC, MIM# 613177
OMIM
604710
Clinvar variants
Variants in LTBP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ltbp4 has been classified as Green List (High Evidence).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC 613177 to Cutis laxa, autosomal recessive, type IC, MIM# 613177

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LTBP4 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LTBP4 was added gene: LTBP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC 613177