| RRAGA |
Encodes Ras-related GTP-binding protein A that activates Mtorc [22], which regulates skin morphogenesis and epidermal barrier formation [23]. |
Abnormality of the skin |
dominant |
/ |
11.43 |
No |
| SRD5A3 |
Steroid 5α-reductase type 3 is known to cause congenital disorders of glycosylation, which may involve retinal disorders [20]. |
Abnormal full-field electroretinogram |
recessive |
recessive |
11.13 |
Yes |
| AIP |
Known to cause pituitary adenoma [24] |
Dementia |
recessive |
/ |
11.03 |
No |
| NUP205 |
NUP205 encodes a nucleoporin, known to cause steroid-resistant nephrotic syndrome [25]. |
Abnormal electroretinogram |
recessive |
/ |
10.98 |
No |
| GRHL2 |
Transcription factor involved in multiple cancers and keratin development [19,26], |
Nail dystrophy |
recessive |
recessive |
10.54 |
Yes |
| STAT1 |
Gain of function variants in this transcription factor exhibit diverse immune dysfunction [27,28] |
Severe combined immunodeficiency |
dominant |
dominant/recessive |
10.38 |
Yes |
| TTN |
Involved in cardiomyopathy [29]. Very large gene prone to artefacts [30]. |
Abnormality of the anterior segment of the globe |
dominant |
/ |
9.74 |
No |
| PDE6A |
PDE6A expresses in cells of the retinal rod outer segment, and is known to cause retinitis pigmentosa [21]. |
Retinal dystrophy |
recessive |
recessive |
9.40 |
Yes |
