| Gene |
Name of the disease |
Contact info |
| AMH |
Persistentmullerian duct syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| ANTXR2 |
Infantile systemic hyalinosis/ Juvenile hyaline fibromatosis |
girish.katta@manipal.edu |
| ARSA |
Metachromatic leukodystrophy |
ashwindalal@gmail.com |
| ARSB |
Maroteaux-Lamy syndrome (MPS VI) |
ashwindalal@gmail.com |
| ASPA |
Canavan disease |
ashwindalal@gmail.com |
| ATP7A |
Occipital horn syndrome; SMA TYPE V |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| ATP-7A (Total exons=22) |
Menkey kinky hair disease |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| BTD |
Biotinidase deficiency |
ashwindalal@gmail.com |
| CHST3 |
CHST3 related disorder (SED- Omani) |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| CTSK (Total exons=8) |
Pyknodysostosis |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| CYLD-1 |
Brook Speigler syndrome (Cylindroma) |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| DLL3 |
Spodylocostal dysostosis 1 |
girish.katta@manipal.edu |
| DYT1 |
Primary dystonia type I |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| ECEL-1 (Exons=18) |
Arthrogryposis, distal-5D |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| EDA |
Ectodermal dysplasia -X- linked |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| EMX2 (Total exons=3) |
Schizencephaly |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| FBP1 |
Fructose 1,6 bisphosphatase deficiency |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| FIG4 |
YunisVaron |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| FLNA |
Otopalatodigitalsyndrome (exon 3,4,5) |
ashwindalal@gmail.com |
| FLNA |
MelnickNeedles syndrome (exon22) |
ashwindalal@gmail.com |
| GALNS |
Morquio A syndrome |
girish.katta@manipal.edu |
| GJA1 |
OCDDD and HallermanStrieff syndrome |
ashwindalal@gmail.com |
| GJA1 ,ODD |
Oculodentodigital syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| GJB2 & GJB6 |
Non-syndromic hearing loss |
ashwindalal@gmail.com |
| GLA |
Fabrydisease |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| GLB1 |
Morquio B syndrome and GM1 gangliosidosis |
girish.katta@manipal.edu |
| HES7 |
Spodylocostal dysostosis 4 |
girish.katta@manipal.edu |
| HGD |
Alkaptonuria |
medgen@cmcvellore.ac.in |
| HPGD |
Pachydermoperiostosis |
ashwindalal@gmail.com |
| IDS |
Hunter syndrome (MPS II) |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com;
ashwindalal@gmail.com
|
| IDUA |
Hurler syndrome (MPS I) |
ashwindalal@gmail.com |
| LFNG |
Spodylocostal dysostosis 3 |
girish.katta@manipal.edu |
| MBTPS-2 |
IFAP |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| MEFV |
Familial Mediterranean fever (Common mutation) |
ashwindalal@gmail.com |
| MESP2 |
Spodylocostal dysostosis 2 |
girish.katta@manipal.edu |
| MESP2 |
Spodylothoracicdysostosis /Jarcho Levin syndrome |
girish.katta@manipal.edu |
| MMP2 |
Torg - Winchester syndrome |
girish.katta@manipal.edu |
| NAGLU |
Sanfilipo type B syndrome |
ashwindalal@gmail.com |
| NEU1 |
Sialidosis |
ashwindalal@gmail.com |
| NLRP3 |
Chronic infantile neurologic cutaneous articular syndrome |
girish.katta@manipal.edu |
| NOTCH-2 |
HajduCheney |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| NPHS1 (Only exon 10 and exon 18) |
Congenital nephrotic syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| NPR2 (Total exons=22)/ GDF5 |
Acromesomelic dysplasia |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| NSD1 |
Sotos syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| PEX-7 (Exons=10) |
Rhizomelicchondodysplasiapunctata |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| PRG4 |
Camptodactyly-arthropathy-coxavara-pericarditis syndrome (Common mutation) |
ashwindalal@gmail.com |
| PRICKLE |
Progressive myoclonic epilepsy with ataxia |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| PSAP |
Metachromatic leukodystrophy (SaposinB) |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| PTPN 11 |
Noonan syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| RAB3GAP1 (Exons= 25) |
Warburg micro syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| RMRP |
Cartilage hair hypoplasia |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| ROR2 (Total exons=9) |
Robinow syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| SGSH |
Sanfilipotype A syndrome |
ashwindalal@gmail.com |
| SKI |
Shprintzen-Goldberg |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com;
ashwindalal@gmail.com |
| SLC26A2 (DTDST) |
Diastrophic dysplasia |
ashwindalal@gmail.com |
| SLC29A3 |
H Syndrome |
ashwindalal@gmail.com |
| SMPD1 |
Neimann pick disease |
ashwindalal@gmail.com |
| SPINK5 |
Netherton syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| SRCAP (Only exon 34) |
Floating Harbor syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| TBX6 |
Spodylocostal dysostosis 5 |
girish.katta@manipal.edu |
| TNFRSF1A |
TNF receptor-associated periodic fever syndrome (TRAPS) (Common mutation) |
ashwindalal@gmail.com |
| TRPV4 |
Familial digital arthropathy with brachydactyly |
girish.katta@manipal.edu |
| TYMP (Exons=10) |
Mitochondrial neurogastrointestinalencephalomyopathy (MNGIE) |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| UMOD (Total exons=10) |
Hyperuricemic nephropathy, familial juvenile 1 |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com |
| VHL |
Von HippelLindau syndrome |
shubharaophadke@gmail.com;
sgpgigenetics@gmail.com;
ashwindalal@gmail.com |
| WISP3 |
Progressive pseudorheumatoid dysplasia |
girish.katta@manipal.edu |
