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: 77
Gene
Gene | Submissions | Last Updated |
---|
AHDC1 | 9 | Oct 23, 2023 |
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 |
CASK | 2 | Jun 27, 2022 |
CCDC47 | 1 | Jun 2, 2022 |
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 |
GATA6 | 1 | Jun 2, 2022 |
GRIA3 | 1 | Jan 20, 2022 |
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 |
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 |
MYT1L | 1 | Mar 18, 2021 |
NDP | 1 | Jun 27, 2022 |
NDP-AS1 | 1 | Jun 27, 2022 |
PAX3 | 9 | Oct 30, 2017 |
PDHA1 | 1 | May 5, 2022 |
POLR2F | 4 | Oct 30, 2017 |
PPP2CA | 1 | May 16, 2022 |
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 |
SLC2A1 | 1 | May 16, 2022 |
SOX10 | 4 | Oct 30, 2017 |
SRCAP | 1 | Jun 2, 2022 |
TP53BP1 | 1 | Jun 27, 2022 |
TP63 | 1 | Aug 24, 2015 |
TRIO | 1 | May 16, 2022 |
TUBGCP4 | 2 | Jun 27, 2022 |
UBE3B | 1 | May 16, 2022 |
WDR45 | 1 | May 5, 2022 |
YY1 | 2 | Oct 11, 2023 |
Condition
Name | Submissions | Last Updated | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 9 | Oct 23, 2023 |
Atrophia bulborum hereditaria | 1 | Jun 27, 2022 |
Branched-chain keto acid dehydrogenase kinase deficiency | 1 | Jun 2, 2022 |
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 | 2 | Oct 11, 2023 |
Glaucoma 3A | 1 | Jul 2, 2020 |
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 |
Waardenburg syndrome type 1 | 9 | Oct 30, 2017 |
Waardenburg syndrome type 2A | 7 | Oct 30, 2017 |