Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:209969878
- GRCh38:
- Chr1:209796533
| IRF6 | G65E | Autosomal dominant popliteal pterygium syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr1:209965587
- GRCh38:
- Chr1:209792242
| IRF6 | | not specified, not provided, Autosomal dominant popliteal pterygium syndrome
| Benign
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:209968684
- GRCh38:
- Chr1:209795339
| IRF6 | | Van der Woude syndrome 1, Autosomal dominant popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to,
Orofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome,
not specified, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:209969902
- GRCh38:
- Chr1:209796557
| IRF6 | | Van der Woude syndrome 1, Autosomal dominant popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to,
Van der Woude syndrome, Popliteal pterygium syndrome, not specified,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:209969821
- GRCh38:
- Chr1:209796476
| IRF6 | R84H | Orofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome,
not provided | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:209969822
- GRCh38:
- Chr1:209796477
| IRF6 | R84C | IRF6-related condition, Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to,
Van der Woude syndrome, not provided | Pathogenic
(Feb 18, 2023) | criteria provided, multiple submitters, no conflicts |