Knobloch Syndrome(Myopia retinal detachment encephalocele)
An Autosomal recessive mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Eye disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | COL18A1/80781 | collagen type XVIII alpha 1 chain | 21q22.3 | Chr21, NC_000021.9 (45405165..45513720) |
108556 nt | 43 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PAK2/5062 | p21 (RAC1) activated kinase 2 | 3q29 | Chr3, NC_000003.12 (196739857..196832647) |
92791 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities