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  2. Coarse facial features including Coffin-Siris-like disorders
  3. LTBP4
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Coarse facial features including Coffin-Siris-like disorders

Gene: LTBP4

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Coarse facial features not predominant presenting feature. In fact face may be "aged" rather than coarse due to skin laxity
Created: 23 Nov 2016, 10:50 a.m.
Created: 23 Nov 2016, 10:50 a.m.

Panel version: 0.51

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive cutis laxa, Type 1C 613177

Publications

Created: 8 Feb 2016, 2:05 p.m.

Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autosomal recessive cutis laxa, Type 1C
OMIM
604710
Clinvar variants
Variants in LTBP4
Penetrance
Complete
Panels with this gene

History Filter Activity

23 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

8 Feb 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

LTBP4 was created by alicegardham

8 Feb 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

LTBP4 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature