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  3. CREB3L1
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Skeletal Dysplasia_Fetal

Gene: CREB3L1

Green List (high evidence)
CREB3L1 (cAMP responsive element binding protein 3 like 1)
EnsemblGeneIds (GRCh38): ENSG00000157613
EnsemblGeneIds (GRCh37): ENSG00000157613
OMIM: 616215, Gene2Phenotype
CREB3L1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 families; functional data.
Created: 19 Dec 2021, 7:05 a.m. | Last Modified: 19 Dec 2021, 7:05 a.m.
Panel Version: 0.1411

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XVI, 616229

Publications

Created: 19 Dec 2021, 7:05 a.m.
Last Modified: 19 Dec 2021, 7:05 a.m.
Panel version: Imported from Fetal anomalies panel version 0.1411

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Osteogenesis imperfecta, type XVI, 616229
OMIM
616215
Clinvar variants
Variants in CREB3L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: creb3l1 has been classified as Green List (High Evidence).

10 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, 616229

10 Nov 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CREB3L1 were set to

10 Nov 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CREB3L1 was added gene: CREB3L1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CREB3L1 was set to Unknown