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Pediatrics (Sichuan Provincial Hospital For Women And Children)

General information

Pediatrics
Sichuan Provincial Hospital For Women And Children
Chengdu
Sichuan
China - 610000
https://www.fybj.net/
Organization ID: 509001

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 29

Gene

GeneSubmissionsLast Updated
ANKRD441Apr 3, 2024
ASXL31Jun 1, 2023
ATRIP1Mar 21, 2023
ATRIP-TREX11Mar 21, 2023
CREBBP1Apr 2, 2023
DEAF11Mar 20, 2023
G6PD1Jun 1, 2023
INSR2Nov 8, 2023
KMT2A1Feb 14, 2024
KMT2E1Sep 21, 2023
LOC1299923041Mar 17, 2023
LOC1300053681Mar 20, 2023
MEIS21May 25, 2023
MVP-DT1Mar 22, 2023
NPHP32Apr 2, 2024
NPHP3-ACAD112Apr 2, 2024
NPRL21Mar 22, 2023
OPHN11Mar 22, 2023
PCNT2Mar 17, 2023
PRRT21Mar 22, 2023
PTS1Mar 21, 2023
QDPR2Mar 21, 2023
RRAS21Mar 20, 2023
SLC6A81Apr 17, 2023
TELO22Mar 22, 2023
TREX11Mar 21, 2023
TRRAP1Apr 17, 2023

Condition

NameSubmissionsLast Updated
4p partial monosomy syndrome1Mar 23, 2023
Aicardi Goutieres syndrome1Mar 21, 2023
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Jun 1, 2023
Autosomal dominant non-syndromic intellectual disability1Mar 20, 2023
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1May 25, 2023
Complex cortical dysplasia with other brain malformations 11Sep 14, 2023
Creatine transporter deficiency1Apr 17, 2023
Developmental delay with or without dysmorphic facies and autism1Apr 17, 2023
Dihydropteridine reductase deficiency1Mar 21, 2023
Familial focal epilepsy with variable foci1Mar 22, 2023
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency2Mar 21, 2023
Leprechaunism syndrome2Nov 8, 2023
Microcephalic osteodysplastic primordial dwarfism type II2Mar 17, 2023
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Apr 3, 2024
Noonan syndrome1Mar 20, 2023
O'Donnell-Luria-Rodan syndrome1Sep 21, 2023
Renal-hepatic-pancreatic dysplasia2Apr 2, 2024
Rubinstein-Taybi syndrome due to CREBBP mutations1Apr 2, 2023
Seizures, benign familial infantile, 21Mar 22, 2023
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Jun 1, 2023
Syndromic X-linked intellectual disability Lubs type1Apr 11, 2023
TELO2-related intellectual disability-neurodevelopmental disorder2Mar 22, 2023
Wiedemann-Steiner syndrome1Feb 14, 2024
X-linked intellectual disability-cerebellar hypoplasia syndrome1Mar 22, 2023