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DDG2P

Gene: CRYAB

Green List (high evidence)
CRYAB (crystallin alpha B)
EnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typified by age related penetrance (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 9:58 p.m.
Panel Version: 5.44
The DDG2P confidence category for the disease CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:11577372). The DDG2P confidence category for the disease MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:21337604).
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
CRYAB-related alpha-related B crystallinopathy; CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 21 Feb 2025, 9:58 p.m.
Panel version: 5.8

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible (for all listed disorders). Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • CRYAB-related alpha-related B crystallinopathy
  • CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
OMIM
123590
Clinvar variants
Variants in CRYAB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CRYAB were set to 11577372; 21337604

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRYAB were changed from MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869; CATARACT POSTERIOR POLAR TYPE 2 613763 to CRYAB-related alpha-related B crystallinopathy; CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869

21 Feb 2025, Gel status: 3

Added New Source, Set mode of inheritance, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CRYAB. Mode of inheritance for gene CRYAB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Oct 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CRYAB were updated from 21337604 to 11577372; 21337604

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869 for gene: CRYAB Publications for gene CRYAB were changed from 11577372 to 21337604

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CRYAB was added gene: CRYAB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYAB were set to 11577372 Phenotypes for gene: CRYAB were set to CATARACT POSTERIOR POLAR TYPE 2 613763