Aortopathy_Connective Tissue Disorders
Gene: LTBP4EnsemblGeneIds (GRCh38): ENSG00000090006
EnsemblGeneIds (GRCh37): ENSG00000090006
OMIM: 604710, Gene2Phenotype
LTBP4 is in 10 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 22829427;
- 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 and inguinal and diaphragmatic hernias (5/9)
Sources: LiteratureCreated: 7 Jul 2020, 11:54 p.m.
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
- Literature
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IC (MIM# 613177)
- OMIM
- 604710
- Clinvar variants
- Variants in LTBP4
- Penetrance
- unknown
- Publications
-
- PMID: 22829427
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ltbp4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ltbp4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: LTBP4 was added gene: LTBP4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP4 were set to PMID: 22829427 Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC (MIM# 613177) Penetrance for gene: LTBP4 were set to unknown Review for gene: LTBP4 was set to GREEN