Payam Genetics Center
(General Welfare Department of North Khorasan Province), PGC
General information
Payam Genetics Center, PGC
General Welfare Department of North Khorasan Province
Behzisti
Bojnourd
Khorasan-e Shemali
Iran - 9415693598
Organization ID: 508950
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 53
Gene
| Gene | Submissions | Last Updated |
|---|
| ADAMTS18 | 1 | Apr 25, 2023 |
| ALG2 | 1 | Apr 6, 2023 |
| ASCC1 | 1 | Mar 14, 2023 |
| ASPM | 1 | Apr 21, 2023 |
| ATP2B2 | 1 | Apr 3, 2023 |
| ATP7B | 1 | Apr 5, 2023 |
| B3GALT6 | 1 | Apr 29, 2023 |
| B4GALNT1 | 1 | Apr 14, 2023 |
| BRWD3 | 1 | Apr 6, 2023 |
| CENPE | 1 | Apr 22, 2023 |
| CFAP96 | 1 | Apr 6, 2023 |
| CFTR | 4 | Mar 19, 2023 |
| CFTR-AS1 | 1 | Mar 19, 2023 |
| CIB2 | 1 | Mar 14, 2023 |
| CNGB1 | 1 | Mar 13, 2023 |
| COL12A1 | 1 | Apr 5, 2023 |
| CPLANE1 | 1 | May 9, 2023 |
| CYP27B1 | 1 | Apr 5, 2023 |
| GJB2 | 1 | Apr 22, 2023 |
| GNPTAB | 1 | Apr 19, 2023 |
| GPHN | 1 | May 5, 2023 |
| GRXCR1 | 1 | Mar 12, 2023 |
| ITGB6 | 1 | Mar 11, 2023 |
| KCNQ5 | 1 | Apr 25, 2023 |
| KIAA0586 | 1 | Apr 18, 2023 |
| LIPA | 1 | May 4, 2023 |
| LOC111674477 | 1 | Mar 19, 2023 |
| MPO | 1 | May 9, 2023 |
| MYO15A | 1 | May 9, 2023 |
| NADSYN1 | 1 | Mar 14, 2023 |
| NPC1 | 1 | Apr 6, 2023 |
| OBSL1 | 1 | Apr 7, 2023 |
| OTOA | 1 | Apr 22, 2023 |
| PAH | 1 | Mar 14, 2023 |
| PANK2 | 1 | Mar 12, 2023 |
| PEX11B | 1 | May 5, 2023 |
| PEX6 | 1 | Apr 6, 2023 |
| PLEKHM1 | 1 | Mar 28, 2023 |
| RDH12 | 1 | May 5, 2023 |
| SCN1A | 1 | Apr 27, 2023 |
| SGCB | 1 | Mar 15, 2023 |
| SH3PXD2B | 1 | Mar 13, 2023 |
| SH3TC2 | 1 | May 6, 2023 |
| SLC16A2 | 1 | Apr 7, 2023 |
| SLC1A4 | 1 | Apr 5, 2023 |
| SLC38A8 | 1 | Mar 31, 2023 |
| SMPD1 | 1 | Mar 29, 2023 |
| SPINK5 | 1 | Mar 10, 2023 |
| TIMMDC1 | 1 | Apr 6, 2023 |
| TMC1 | 1 | Apr 18, 2023 |
| TSEN2 | 1 | Mar 18, 2023 |
| UFSP2 | 1 | Apr 6, 2023 |
| UQCC2 | 1 | Apr 19, 2023 |
| WFS1 | 1 | Apr 18, 2023 |
Condition
| Name | Submissions | Last Updated | | 3M syndrome 2 | 1 | Apr 7, 2023 |
| Allan-Herndon-Dudley syndrome | 1 | Apr 7, 2023 |
| Amelogenesis imperfecta type 1H | 1 | Mar 11, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Mar 15, 2023 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Apr 3, 2023 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Apr 22, 2023 |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 | Apr 22, 2023 |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 | Mar 12, 2023 |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 | May 9, 2023 |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 | Apr 18, 2023 |
| Autosomal recessive osteopetrosis 1 | 1 | Mar 28, 2023 |
| Charcot-Marie-Tooth disease type 4C | 1 | May 6, 2023 |
| Congenital myasthenic syndrome 14 | 1 | Apr 6, 2023 |
| Cystic fibrosis | 4 | Mar 19, 2023 |
| Developmental and epileptic encephalopathy, 1 | 1 | Apr 6, 2023 |
| Familial aplasia of the vermis | 1 | May 9, 2023 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 1 | Mar 31, 2023 |
| Frank-Ter Haar syndrome | 1 | Mar 13, 2023 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Apr 27, 2023 |
| Hereditary spastic paraplegia 26 | 1 | Apr 14, 2023 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 | Mar 12, 2023 |
| Intellectual disability, X-linked 93 | 1 | Apr 6, 2023 |
| Intellectual disability, autosomal dominant 46 | 1 | Apr 25, 2023 |
| Joubert syndrome 23 | 1 | Apr 18, 2023 |
| Leber congenital amaurosis 13 | 1 | May 5, 2023 |
| Microcephaly 13, primary, autosomal recessive | 1 | Apr 22, 2023 |
| Microcephaly 5, primary, autosomal recessive | 1 | Apr 21, 2023 |
| Microcornea-myopic chorioretinal atrophy | 1 | Apr 25, 2023 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Apr 6, 2023 |
| Mitochondrial complex III deficiency nuclear type 7 | 1 | Apr 19, 2023 |
| Myeloperoxidase deficiency | 1 | May 9, 2023 |
| Netherton syndrome | 1 | Mar 10, 2023 |
| Niemann-Pick disease, type A | 1 | Mar 29, 2023 |
| Niemann-Pick disease, type C1 | 1 | Apr 6, 2023 |
| Peroxisome biogenesis disorder 14B | 1 | May 5, 2023 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 1 | Apr 6, 2023 |
| Phenylketonuria | 1 | Mar 14, 2023 |
| Pontocerebellar hypoplasia type 2B | 1 | Mar 18, 2023 |
| Pseudo-Hurler polydystrophy | 1 | Apr 19, 2023 |
| Retinitis pigmentosa 45 | 1 | Mar 13, 2023 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Apr 5, 2023 |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 | Mar 14, 2023 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 1 | Apr 29, 2023 |
| Ullrich congenital muscular dystrophy | 1 | Apr 5, 2023 |
| Usher syndrome type 1J | 1 | Mar 14, 2023 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 1 | Mar 14, 2023 |
| Vitamin D-dependent rickets, type 1A | 1 | Apr 5, 2023 |
| Wilson disease | 1 | Apr 5, 2023 |
| Wolfram syndrome 1 | 1 | Apr 18, 2023 |
| Wolman disease | 1 | May 4, 2023 |
