KBG Syndrome(Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Multisystemic 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 | ANKRD11/29123 | ankyrin repeat domain 11 | 16q24.3 | Chr16, NC_000016.10 (89267630..89490561, complement) |
222932 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | KAT6B/23522 | lysine acetyltransferase 6B | 10q22.2 | Chr10, NC_000010.11 (74824936..75032624) |
207689 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SETD5/55209 | SET domain containing 5 | 3p25.3 | Chr3, NC_000003.12 (9397615..9478154) |
80540 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | TBX1/6899 | T-box transcription factor 1 | 22q11.21 | Chr22, NC_000022.11 (19756703..19783593) |
26891 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | COL2A1/1280 | collagen type II alpha 1 chain | 12q13.11-q13.2 | Chr12, NC_000012.12 (47972967..48006212, complement) |
33246 nt | 57 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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