| - GRCh37:
- Chr14:35596743
- GRCh38:
- Chr14:35127537
| PRORP, PRORP-PSMA6 | Y270H, Y365H, Y349H | Combined oxidative phosphorylation deficiency 54 | Uncertain significance
(Jan 12, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr14:35649949
- GRCh38:
- Chr14:35180743
| PRORP, PRORP-PSMA6 | A398V, A414V, A42V, A319V | Combined oxidative phosphorylation deficiency 54 | Likely pathogenic
(Jan 12, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr14:35596809
- GRCh38:
- Chr14:35127603
| PRORP, PRORP-PSMA6 | T292A, T387A, T371A, T15A | Combined oxidative phosphorylation deficiency 54 | Likely pathogenic
(Jan 12, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr14:35739687
- GRCh38:
- Chr14:35270481
| PRORP, PRORP-PSMA6 | R130Q, R407Q, R486Q, R502Q | Combined oxidative phosphorylation deficiency 54 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:35735958
- GRCh38:
- Chr14:35266752
| PRORP, PRORP-PSMA6 | A339D, A418D, A434D, A62D | Childhood onset sensorineural hearing impairment, Combined oxidative phosphorylation deficiency 54 | Pathogenic/Likely pathogenic
(Feb 8, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr14:35649943
- GRCh38:
- Chr14:35180737
| PRORP, PRORP-PSMA6 | N317S, N396S, N40S, N412S | Inborn genetic diseases | Uncertain significance
(Feb 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:35649901-35649902
- GRCh38:
- Chr14:35180695-35180696
| PRORP, PRORP-PSMA6 | S28fs, S400fs, S305fs, S384fs | Combined oxidative phosphorylation deficiency 54, Childhood onset sensorineural hearing impairment, Lactic acidosis,
Leukoencephalopathy, Persistent lactic acidosis, Diffuse white matter abnormalities,
Feeding difficulties, Global developmental delay, Hypertonia,
Microcephaly | Pathogenic/Likely pathogenic
(Feb 8, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr14:35735991
- GRCh38:
- Chr14:35266785
| PRORP, PRORP-PSMA6 | R445Q, R350Q, R429Q, R73Q | Combined oxidative phosphorylation deficiency 54, Childhood onset sensorineural hearing impairment, Lactic acidosis,
Leukoencephalopathy, Persistent lactic acidosis, Diffuse white matter abnormalities,
Feeding difficulties, Global developmental delay, Hypertonia,
Microcephaly | Pathogenic/Likely pathogenic
(Feb 8, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr14:35739636
- GRCh38:
- Chr14:35270430
| PRORP, PRORP-PSMA6 | A485V, A113V, A469V, A390V | Combined oxidative phosphorylation deficiency 54, Perrault syndrome 1 | Pathogenic/Likely pathogenic
(Feb 8, 2022) | no assertion criteria provided |