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Institute for Genomic Medicine (Nationwide Children's Hospital), IGM

General information

Institute for Genomic Medicine, IGM
Nationwide Children's Hospital
700 Children's Drive, RBIII
Columbus
Ohio
United States - 43205
http://www.nationwidechildrens.org/genomics-program
Organization ID: 506343

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 31

Gene

GeneSubmissionsLast Updated
ASXL31Oct 2, 2017
ATP7B3Apr 20, 2021
B4GALT72May 24, 2019
BAP11Jul 9, 2021
BICD21Apr 4, 2018
BRAF1Dec 6, 2017
CDX21Feb 15, 2023
CSNK2A11May 7, 2024
FLNB1Jan 7, 2019
GRIA21Apr 28, 2022
HOXD132Mar 25, 2021
HTRA22Oct 3, 2023
IKZF11Jan 18, 2024
LOC1268598271Dec 15, 2022
LOXL31Oct 3, 2023
MYO18B2Oct 25, 2018
OCA21Jan 18, 2024
PLS11Jul 23, 2019
PTEN2Mar 29, 2021
RLIM1Dec 14, 2018
SEPSECS2Oct 1, 2021
SLC35A21Jun 21, 2019
SMS1Jan 13, 2021
TAB21Dec 15, 2022
TAOK11Jan 13, 2022

Condition

NameSubmissionsLast Updated
Absent speech1Apr 4, 2018
Anorectal malformation1Feb 15, 2023
Arthrogryposis multiplex congenita1Apr 4, 2018
BAP1-related tumor predisposition syndrome1Jul 9, 2021
Cerebral cortical atrophy1Apr 4, 2018
Childhood ganglioglioma1Dec 6, 2017
Decreased fetal movement1Apr 4, 2018
Developmental delay with or without intellectual impairment or behavioral abnormalities1Jan 13, 2022
Downturned corners of mouth1Apr 4, 2018
EEG abnormality1Apr 4, 2018
Feeding difficulties1Apr 4, 2018
Hearing impairment1Jul 23, 2019
Hemimegalencephaly2Mar 29, 2021
Intellectual disability, X-linked 611Dec 14, 2018
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome2Oct 25, 2018
Knee dislocation1Jan 7, 2019
Leigh syndrome2Oct 3, 2023
Lethal skeletal dysplasia2May 24, 2019
Limited knee flexion/extension1Jan 7, 2019
Macrocephaly1Apr 4, 2018
Muscle weakness1Apr 4, 2018
Muscular atrophy1Apr 4, 2018
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Apr 28, 2022
Okur-Chung neurodevelopmental syndrome1May 7, 2024
Open mouth1Apr 4, 2018
Pancytopenia due to IKZF1 mutations1Jan 18, 2024
Patellar hypoplasia1Jan 7, 2019
Pontocerebellar hypoplasia type 2D2Oct 1, 2021
Primary dilated cardiomyopathy1Dec 15, 2022
Recurrent fractures1Apr 4, 2018
SLC35A2-congenital disorder of glycosylation1Jun 21, 2019
Seizure1Apr 4, 2018
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Oct 2, 2017
Syndromic X-linked intellectual disability Snyder type1Jan 13, 2021
Synpolydactyly type 12Mar 25, 2021
Tapered finger1Apr 4, 2018
Tyrosinase-positive oculocutaneous albinism1Jan 18, 2024
Wilson disease3Apr 20, 2021