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  2. Fetal anomalies
  3. CIB2
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Fetal anomalies

Gene: CIB2

Red List (low evidence)
CIB2 (calcium and integrin binding family member 2)
EnsemblGeneIds (GRCh38): ENSG00000136425
EnsemblGeneIds (GRCh37): ENSG00000136425
OMIM: 605564, Gene2Phenotype
CIB2 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The phenotypes of deafness and Retinitis pigmentosa (part of Usher syndrome, type IJ) would not present prenatally. Action taken: Demoted CIB2 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for USHER SYNDROME TYPE 1J and Confirmed for NONSYNDROMIC DEAFNESS DFNB48.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as LOF for USHER SYNDROME TYPE 1J, and listed as All missense/in frame for NONSYNDROMIC DEAFNESS DFNB48.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • USHER SYNDROME TYPE 1J
  • NONSYNDROMIC DEAFNESS DFNB48
OMIM
605564
Clinvar variants
Variants in CIB2
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to CIB2. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes NONSYNDROMIC DEAFNESS DFNB48 for gene: CIB2

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CIB2 was added gene: CIB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIB2 were set to USHER SYNDROME TYPE 1J