1. Genes and Genomic Entities
  2. CRYAA

CRYAA

crystallin alpha A
OMIM: 123580, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CRYAA in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Cataract
  • Cataract 9, multiple types, 604219
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
  • CATARACT, NUCLEAR
Green CRYAA in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
  • CATARACT, NUCLEAR
Green CRYAA in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CATARACT, NUCLEAR 123580
    • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219
    Red CRYAA in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cataract 9, multiple types, 604219
    Green CRYAA in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Cataract 9, multiple types, OMIM:604219
    • Anterior segment dysgenesis, MONDO:0019503
    • microphthalmia, MONDO:0021129