Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr3:183882293
- GRCh38:
- Chr3:184164505
| DVL3 | G123R | Tented upper lip vermilion, Midface retrusion, Short toe,
Dental crowding, Short finger, Lumbar hyperlordosis,
Neurodevelopmental delay, Genu valgum, Anteverted nares,
Clinodactyly of the 5th finger, Short stature ...see more | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:53676782
- GRCh38:
- Chr1:53211110
| CPT2 | Y479F | Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, not specified,
not provided, Genu valgum, Myopathic facies,
Generalized hypotonia, Pes planus, Hyperextensibility of the finger joints,
Hyperextensibility at elbow, Hyperextensible hand joints ...see more | Conflicting interpretations of pathogenicity
(Aug 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:53667997
- GRCh38:
- Chr1:53202325
| CPT2 | K79T | Carnitine palmitoyl transferase II deficiency, severe infantile form, Hyperextensibility at elbow, Genu valgum,
Pes planus, Hyperextensibility of the finger joints, Generalized hypotonia,
Myopathic facies, Hyperextensible hand joints, Carnitine palmitoyltransferase II deficiency,
not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Dysarthria, Delayed speech and language development, Genu valgum,
Increased overbite, Broad face, Prominent nasal bridge,
Strabismus, Deeply set eye, Specific learning disability,
Obesity, DiastemaSeizure,
Short stature, Global developmental delay, Metatarsus valgus,
Swan neck-like deformities of the fingers, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |