CRYGS
Basic information
Region (hg38): 3:186538441-186546702
Previous symbols: [ "CRYG8" ]
Links
Phenotypes
GenCC
Source:
- cataract 20 multiple types (Strong), mode of inheritance: AD
- early-onset sutural cataract (Supportive), mode of inheritance: AD
- early-onset lamellar cataract (Supportive), mode of inheritance: AD
- cataract 20 multiple types (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Cataract 20, multiple types | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Ophthalmologic | 16141006; 18587492; 19262743 |
ClinVar
This is a list of variants' phenotypes submitted to
- Cataract 20 multiple types (2 variants)
- Retinitis pigmentosa (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRYGS gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 2 | |||||
missense | 23 | 28 | ||||
nonsense | 2 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | 2 | |||
non coding | 7 | |||||
Total | 2 | 2 | 25 | 6 | 4 |
Variants in CRYGS
This is a list of pathogenic ClinVar variants found in the CRYGS region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-186538712-C-T | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) | ||
3-186538713-G-A | Inborn genetic diseases | Uncertain significance (Mar 08, 2024) | ||
3-186538731-G-A | Cataract 20 multiple types | Uncertain significance (Aug 11, 2023) | ||
3-186538783-G-T | Cataract 20 multiple types | Uncertain significance (Oct 29, 2023) | ||
3-186538797-G-A | Cataract 20 multiple types | Uncertain significance (Dec 27, 2022) | ||
3-186538812-C-A | Cataract 20 multiple types | Uncertain significance (May 06, 2021) | ||
3-186538847-G-A | Inborn genetic diseases | Uncertain significance (Jan 08, 2024) | ||
3-186538859-C-T | CRYGS-related disorder | Uncertain significance (Aug 18, 2023) | ||
3-186538878-T-G | Inborn genetic diseases | Uncertain significance (May 01, 2023) | ||
3-186538881-T-C | Inborn genetic diseases | Uncertain significance (Apr 07, 2023) | ||
3-186538897-G-A | CRYGS-related disorder | Likely benign (Aug 13, 2019) | ||
3-186538927-C-T | Cataract 20 multiple types | Benign/Likely benign (Jan 22, 2024) | ||
3-186538928-C-T | Cataract 20 multiple types | Likely benign (Oct 29, 2023) | ||
3-186538934-T-G | Cataract 20 multiple types • Inborn genetic diseases | Uncertain significance (May 31, 2023) | ||
3-186538939-G-T | Cataract 20 multiple types | Benign (Dec 07, 2023) | ||
3-186538964-C-G | Cataract 20 multiple types | Uncertain significance (Dec 02, 2024) | ||
3-186538980-C-T | Cataract 20 multiple types | Likely benign (Oct 08, 2021) | ||
3-186539091-C-T | Benign (Oct 01, 2018) | |||
3-186539172-C-T | Likely benign (Oct 09, 2018) | |||
3-186539251-C-T | Likely benign (Mar 26, 2020) | |||
3-186539366-C-T | Cataract 20 multiple types | Uncertain significance (Sep 29, 2016) | ||
3-186539371-C-T | Cataract 20 multiple types | Uncertain significance (Mar 21, 2021) | ||
3-186539372-A-G | Cataract 20 multiple types | Uncertain significance (Jan 15, 2020) | ||
3-186539383-C-T | Cataract 20 multiple types | Uncertain significance (Oct 17, 2022) | ||
3-186539387-C-T | CRYGS-related disorder | Uncertain significance (Apr 17, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CRYGS | protein_coding | protein_coding | ENST00000392499 | 3 | 8262 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0230 | 0.919 | 125725 | 0 | 22 | 125747 | 0.0000875 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.243 | 102 | 109 | 0.935 | 0.00000657 | 1181 |
Missense in Polyphen | 23 | 33.592 | 0.68468 | 423 | ||
Synonymous | 1.11 | 27 | 35.4 | 0.763 | 0.00000188 | 313 |
Loss of Function | 1.62 | 4 | 9.33 | 0.429 | 4.83e-7 | 104 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000333 | 0.000333 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000969 | 0.0000967 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000131 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Crystallins are the dominant structural components of the vertebrate eye lens.;
- Disease
- DISEASE: Cataract 20, multiple types (CTRCT20) [MIM:116100]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical. {ECO:0000269|PubMed:16141006}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Intolerance Scores
- loftool
- 0.560
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 35.42
Haploinsufficiency Scores
- pHI
- 0.116
- hipred
- N
- hipred_score
- 0.380
- ghis
- 0.613
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.192
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Crygs
- Phenotype
- vision/eye phenotype;
Gene ontology
- Biological process
- morphogenesis of an epithelium;lens development in camera-type eye
- Cellular component
- Molecular function
- structural constituent of eye lens;protein binding