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  2. Ductal plate malformation
  3. BICC1
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Ductal plate malformation

Gene: BICC1

Red List (low evidence)
BICC1 (BicC family RNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000122870
EnsemblGeneIds (GRCh37): ENSG00000122870
OMIM: 614295, Gene2Phenotype
BICC1 is in 4 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

No liver phenotype in patients but mouse model show liver cysts.
Created: 12 Nov 2018, 1:55 p.m.

Publications

Created: 12 Nov 2018, 1:55 p.m.

Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to} (601331)
OMIM
614295
Clinvar variants
Variants in BICC1
Penetrance
None
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: No liver phenotype in patients

12 Nov 2018, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to BICC1.

12 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: BICC1 was added gene: BICC1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: BICC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BICC1 were set to {Renal dysplasia, cystic, susceptibility to} (601331)