Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr12:49334784
- GRCh38:
- Chr12:48941001
| ARF3 | T32N | Intellectual disability, Kyphosis, Atrophy/Degeneration affecting the central nervous system
| Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:103163872
- GRCh38:
- Chr7:103523425
| RELN | S2486G | Arthritis, sacroiliac, Synovitis, Arthritis,
Sacroiliac joint synovitis, Enthesitis, Inflammation of the large intestine,
Kyphosis, Low back pain, Scoliosis
| Pathogenic
(Aug 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr11:58893032
- GRCh38:
- Chr11:59125559
| FAM111B | C458fs, C488fs | Myositis disease, Short stature, Kyphosis,
Ectopic ossification, See cases | Likely pathogenic
(Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39975558-39975559
- GRCh38:
- Chr17:41819306-41819307
| FKBP10 | G278fs | Recurrent fractures, Short stature, Kyphosis,
Osteogenesis imperfecta type 11, not provided, Abnormality of the skeletal system,
See cases | Pathogenic
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:25158473
- GRCh38:
- Chr4:25156851
| SEPSECS | | Congenital cerebellar hypoplasia, Arthrogryposis multiplex congenita, Kyphosis,
Spinal rigidity, Severe global developmental delay, Cerebral hypoplasia,
Seizure, Pontocerebellar hypoplasia type 2D | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |