Laboratory of Human Genetics
(Universidade de São Paulo), LHG
General information
Laboratory of Human Genetics, LHG
Universidade de São Paulo
Sao Paulo
Brazil
Organization ID: 505505
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 117
Gene
| Gene | Submissions | Last Updated |
|---|
| AHDC1 | 13 | Sep 5, 2024 |
| ANKRD11 | 2 | Jun 2, 2022 |
| ASNS | 1 | May 16, 2022 |
| BCKDK | 1 | Jun 2, 2022 |
| BRAT1 | 2 | Jun 2, 2022 |
| BRWD3 | 1 | Jan 20, 2022 |
| BSND | 1 | Aug 28, 2024 |
| C10orf105 | 1 | Aug 28, 2024 |
| CABP2 | 1 | Aug 28, 2024 |
| CASK | 2 | Jun 27, 2022 |
| CCDC47 | 1 | Jun 2, 2022 |
| CDH23 | 3 | Aug 28, 2024 |
| CEACAM16 | 1 | Aug 28, 2024 |
| CEACAM16-AS1 | 1 | Aug 28, 2024 |
| CIB2 | 1 | Aug 28, 2024 |
| CLDN14 | 1 | Aug 28, 2024 |
| CLDN14-AS1 | 1 | Aug 28, 2024 |
| CTNNB1 | 1 | May 5, 2022 |
| CYP1B1 | 1 | Jul 2, 2020 |
| CZ1P-ASNS | 1 | May 16, 2022 |
| DDX3X | 2 | May 5, 2022 |
| DIP2B | 1 | Oct 22, 2020 |
| DYNC1H1 | 1 | Jun 2, 2022 |
| EDNRB | 1 | Oct 30, 2017 |
| EDNRB-AS1 | 1 | Oct 30, 2017 |
| EHMT1 | 1 | Jan 20, 2022 |
| FGFR1 | 1 | Jun 27, 2022 |
| FGFR3 | 1 | Aug 28, 2024 |
| GATA6 | 1 | Jun 2, 2022 |
| GJB2 | 2 | Aug 19, 2024 |
| GRIA3 | 1 | Jan 20, 2022 |
| JAG1 | 1 | Apr 8, 2024 |
| KARS1 | 1 | Aug 28, 2024 |
| KCNB1 | 1 | May 5, 2022 |
| KCNT1 | 1 | Mar 30, 2023 |
| KDM5C | 1 | Jun 20, 2019 |
| KNL1 | 2 | Jun 27, 2022 |
| LDLR | 1 | Oct 22, 2020 |
| LHFPL5 | 1 | Aug 28, 2024 |
| LOC111982869 | 1 | Aug 28, 2024 |
| LOC126806659 | 1 | May 5, 2022 |
| LOC126862060 | 1 | Jun 2, 2022 |
| LZTR1 | 1 | Jun 27, 2022 |
| MCPH1 | 1 | May 16, 2022 |
| MED13L | 2 | Jan 28, 2021 |
| MITF | 2 | Oct 30, 2017 |
| MPZL2 | 1 | Aug 28, 2024 |
| MYO15A | 3 | Aug 28, 2024 |
| MYO7A | 1 | Aug 28, 2024 |
| MYT1L | 1 | Mar 18, 2021 |
| NDP | 1 | Jun 27, 2022 |
| NDP-AS1 | 1 | Jun 27, 2022 |
| OTOF | 2 | Aug 28, 2024 |
| OTOG | 2 | Aug 28, 2024 |
| P2RX2 | 1 | Aug 28, 2024 |
| PAX3 | 9 | Oct 30, 2017 |
| PDHA1 | 1 | May 5, 2022 |
| PDZD7 | 2 | Aug 28, 2024 |
| POLR2F | 4 | Oct 30, 2017 |
| PPP2CA | 1 | May 16, 2022 |
| PTPRQ | 1 | Aug 28, 2024 |
| RORA | 1 | Jul 2, 2020 |
| RORA-AS1 | 1 | Jul 2, 2020 |
| SALL4 | 1 | Nov 10, 2015 |
| SCAF4 | 1 | Jan 20, 2022 |
| SETD1A | 1 | Jan 20, 2022 |
| SHH | 1 | Jan 20, 2022 |
| SIX1 | 1 | Aug 28, 2024 |
| SLC2A1 | 1 | May 16, 2022 |
| SOX10 | 4 | Oct 30, 2017 |
| SRCAP | 1 | Jun 2, 2022 |
| TMC1 | 2 | Aug 28, 2024 |
| TMPRSS3 | 1 | Aug 28, 2024 |
| TP53BP1 | 1 | Jun 27, 2022 |
| TP63 | 1 | Aug 24, 2015 |
| TRIO | 1 | May 16, 2022 |
| TRIOBP | 1 | Aug 28, 2024 |
| TUBGCP4 | 2 | Jun 27, 2022 |
| UBE3B | 1 | May 16, 2022 |
| USH1G | 1 | Aug 28, 2024 |
| USH2A | 3 | Aug 28, 2024 |
| WDR45 | 1 | May 5, 2022 |
| YY1 | 3 | May 15, 2024 |
Condition
| Name | Submissions | Last Updated | | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 13 | Sep 5, 2024 |
| Atrophia bulborum hereditaria | 1 | Jun 27, 2022 |
| Autosomal dominant nonsyndromic hearing loss | 1 | Aug 28, 2024 |
| Branched-chain keto acid dehydrogenase kinase deficiency | 1 | Jun 2, 2022 |
| Branchiootic syndrome | 1 | Aug 28, 2024 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Aug 28, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Jan 28, 2021 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | May 16, 2022 |
| Chromosome 17p13.3 duplication syndrome | 2 | Jul 2, 2020 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | May 16, 2022 |
| Developmental and epileptic encephalopathy, 14 | 1 | Mar 30, 2023 |
| Developmental and epileptic encephalopathy, 26 | 1 | May 5, 2022 |
| Duane-radial ray syndrome | 1 | Nov 10, 2015 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 1 | Aug 24, 2015 |
| Encephalopathy due to GLUT1 deficiency | 1 | May 16, 2022 |
| Floating-Harbor syndrome | 1 | Jun 2, 2022 |
| Gabriele de Vries syndrome | 3 | May 15, 2024 |
| Glaucoma 3A | 1 | Jul 2, 2020 |
| Hearing loss, autosomal recessive | 27 | Aug 28, 2024 |
| Hepatoblastoma | 1 | Apr 8, 2024 |
| Houge-Janssens syndrome 3 | 1 | May 16, 2022 |
| Hypercholesterolemia, familial, 1 | 1 | Oct 22, 2020 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Jun 27, 2022 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Jul 2, 2020 |
| Intellectual disability, FRA12A type | 1 | Oct 22, 2020 |
| Intellectual disability, X-linked 102 | 2 | May 5, 2022 |
| Intellectual disability, X-linked 93 | 1 | Jan 20, 2022 |
| Intellectual disability, autosomal dominant 13 | 1 | Jun 2, 2022 |
| Intellectual disability, autosomal dominant 39 | 1 | Mar 18, 2021 |
| KBG syndrome | 2 | Jun 2, 2022 |
| Kleefstra syndrome 1 | 1 | Jan 20, 2022 |
| Microcephaly 1, primary, autosomal recessive | 1 | May 16, 2022 |
| Microcephaly 4, primary, autosomal recessive | 2 | Jun 27, 2022 |
| Microcephaly and chorioretinopathy 3 | 2 | Jun 27, 2022 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | May 16, 2022 |
| Neurodegeneration with brain iron accumulation 5 | 1 | May 5, 2022 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 2 | Jun 2, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Jan 20, 2022 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Jan 20, 2022 |
| Noonan syndrome 10 | 1 | Jun 27, 2022 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | May 16, 2022 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Jun 2, 2022 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | May 5, 2022 |
| Rare syndromic intellectual disability | 1 | Jan 20, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | May 5, 2022 |
| Syndromic X-linked intellectual disability 94 | 1 | Jan 20, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Jun 20, 2019 |
| Syndromic X-linked intellectual disability Najm type | 2 | Jun 27, 2022 |
| Trichohepatoneurodevelopmental syndrome | 1 | Jun 2, 2022 |
| Usher syndrome | 5 | Aug 28, 2024 |
| Waardenburg syndrome type 1 | 9 | Oct 30, 2017 |
| Waardenburg syndrome type 2A | 7 | Oct 30, 2017 |
