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DDG2P

Gene: CRYGD

Green List (high evidence)
CRYGD (crystallin gamma D)
EnsemblGeneIds (GRCh38): ENSG00000118231
EnsemblGeneIds (GRCh37): ENSG00000118231
OMIM: 123690, Gene2Phenotype
CRYGD is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CRYGD-related cataract, OMIM:115700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 12676897;12011157;17564961;18079686;10915766;10521291;9927684;20508808).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3
The DDG2P confidence category for the disease Cataract 2, multiple types, OMIM:115700 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 10915766;10521291;9927684;12011157;17564961).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CRYGD-related cataract, OMIM:115700

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 5.12

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:46 p.m.
Multiple MOPs in DD-G2P download: loss of function, uncertain. Multiple ratings in DD-G2P download: Rated possible for CATARACT CRYSTALLINE ACULEIFORM 115700 and CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690. Rated confirmed for CATARACT CONGENITAL CERULEAN TYPE 3 608983 and CATARACT AUTOSOMAL DOMINANT 604219.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • CRYGD-related cataract, OMIM:115700
OMIM
123690
Clinvar variants
Variants in CRYGD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRYGD were changed from Cataract 2, multiple types, OMIM:115700 to CRYGD-related cataract, OMIM:115700

21 Feb 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CRYGD were set to 9927684; 17564961; 12011157; 10915766; 10521291

21 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRYGD were changed from Cataract 2, multiple types, OMIM:115700 to Cataract 2, multiple types, OMIM:115700

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRYGD were changed from Cataract 2, multiple types, OMIM:115700 to Cataract 2, multiple types, OMIM:115700

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRYGD were changed from CATARACT CONGENITAL CERULEAN TYPE 3 115700; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700 to Cataract 2, multiple types, OMIM:115700

7 Oct 2023, Gel status: 1

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: CRYGD.

4 Oct 2023, Gel status: 1

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to CRYGD. Publications for gene: CRYGD were updated from 9927684 to 9927684; 17564961; 12011157; 10915766; 10521291 Rating Changed from Green List (high evidence) to Red List (low evidence)

3 Oct 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CRYGD were changed from CATARACT CONGENITAL CERULEAN TYPE 3 608983; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700 to CATARACT CONGENITAL CERULEAN TYPE 3 115700; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700

29 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Multiple MOPs in DD-G2P downlo

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: CRYGD.

19 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT AUTOSOMAL DOMINANT 604219 for gene: CRYGD

19 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 3 608983 for gene: CRYGD

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690 for gene: CRYGD Publications for gene CRYGD were changed from 17564961; 12011157; 10915766; 10521291; 9927684 to 9927684

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CRYGD was added gene: CRYGD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYGD were set to 17564961; 12011157; 10915766; 10521291; 9927684 Phenotypes for gene: CRYGD were set to CATARACT CRYSTALLINE ACULEIFORM 115700