| - GRCh37:
- Chr17:16120716
- GRCh38:
- Chr17:16217402
| PIGL | P59H | CHIME syndrome, Hypertelorism, Camptodactyly of finger,
Premature birth, Wide intermamillary distance, Low-set ears,
Bilateral cleft lip and palate, Postaxial hand polydactyly, Hypoplasia of scrotum
| Uncertain significance
(Jan 1, 2016) | criteria provided, single submitter |
| | | | High myopia, Unilateral ptosis, Delayed speech and language development,
Frequent falls, Motor delay, Short stature,
Upslanted palpebral fissure, Camptodactyly of finger, Interictal epileptiform activity,
Obesity, ClumsinessDevelopmental regression,
Intellectual disability, mild, Bilateral tonic-clonic seizure, Generalized myoclonic seizure,
Thin upper lip vermilion, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Macrocephaly, Lumbar hypertrichosis, Camptodactyly of finger,
Hypotonia, Sacral hypertrichosis, Strabismus,
Pes planus, Moderate global developmental delay, Metatarsus adductus,
Delayed speech and language development, High palateCryptorchidism,
Sensorineural hearing impairment, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16220000
- GRCh38:
- Chr17:16316686
| PIGL | L167P | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, Inborn genetic diseases, not provided,
CHIME syndrome, Bilateral cleft lip and palate, Wide intermamillary distance,
Hypoplasia of scrotum, Low-set ears, Camptodactyly of finger,
Premature birth, HypertelorismPostaxial hand polydactyly,
...see more | Conflicting interpretations of pathogenicity
(Jul 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrMT:8993
- GRCh38:
- ChrMT:8993
| MT-ATP6 | | Mitochondrial disease | Pathogenic
(Mar 22, 2021) | reviewed by expert panel
FDA Recognized Database |