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Fetal anomalies

Gene: CRYBB1

Green List (high evidence)

CRYBB1 (crystallin beta B1)
EnsemblGeneIds (GRCh38): ENSG00000100122
EnsemblGeneIds (GRCh37): ENSG00000100122
OMIM: 600929, Gene2Phenotype
CRYBB1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Although the 'confirmed' disorder in DDG2P has 'monoallelic' inheritance (and 'probable' rating for the biallelic disorders), have kept the MOI as 'both AD and AR' on the fetal panel so all cataract cases are picked up.
Created: 28 Nov 2019, 10:04 a.m. | Last Modified: 28 Nov 2019, 10:04 a.m.
Panel Version: 0.357
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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 and Confirmed for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3.
Created: 11 Dec 2018, 9:04 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT 17, MULTIPLE TYPES
  • CATARACT 17, MULTIPLE TYPES, MONOALLELIC
  • CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
OMIM
600929
Clinvar variants
Variants in CRYBB1
Penetrance
None
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3

28 Nov 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CRYBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 for gene: CRYBB1

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CRYBB1 was added gene: CRYBB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYBB1 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3