Human Genetics Department (DeNA Laboratory)

General information

Human Genetics Department
DeNA Laboratory
Tehran
Tehran
Iran
http://www.modares.ac.ir
Organization ID: 507131

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 16

Gene

GeneSubmissionsLast Updated
ADPRS1Apr 30, 2020
CDH231Sep 23, 2020
CLN31Feb 13, 2021
CTSK2Sep 16, 2019
GPT21Oct 10, 2019
LMNB21Dec 8, 2020
MFSD2A1Aug 29, 2019
MITF1Feb 25, 2021
PLAA1Apr 5, 2021
RAB3GAP11Feb 12, 2021
RELN1Aug 7, 2019
SLC6A31Oct 17, 2019
ST3GAL31Jan 17, 2020
TMC11Sep 23, 2019
WDR621Feb 16, 2021

Condition

NameSubmissionsLast Updated
Abdominal distention1Apr 30, 2020
Abnormality of the corpus callosum1Feb 12, 2021
Abnormality of the fontanelles or cranial sutures1Sep 16, 2019
Abnormality of the skull1Sep 16, 2019
Absent speech1Feb 12, 2021
Aggressive behavior2Jan 17, 2020
Arthritis1Aug 7, 2019
Arthritis, sacroiliac1Aug 7, 2019
Atypical absence seizures1Apr 30, 2020
Bilateral microphthalmos1Feb 12, 2021
Bilateral sensorineural hearing impairment3Sep 23, 2020
Cerebral hypomyelination1Feb 12, 2021
Cleft palate1Feb 12, 2021
Congenital cataract1Feb 12, 2021
Congenital ptosis1Feb 12, 2021
Cortical thickening of humeral diaphysis1Feb 12, 2021
Cryptorchidism2Feb 12, 2021
Delayed closure of the anterior fontanelle1Sep 16, 2019
Delayed cranial suture closure1Aug 29, 2019
Delayed gross motor development1Aug 29, 2019
Delayed speech and language development4Apr 30, 2020
Dental crowding1Sep 16, 2019
Difficulty walking2Jan 17, 2020
Dysphagia1Oct 17, 2019
Enthesitis1Aug 7, 2019
Febrile seizures1Aug 29, 2019
Frequent falls2Jan 17, 2020
Functional abnormality of male internal genitalia1Aug 29, 2019
Gait imbalance1Oct 17, 2019
Generalized myoclonic seizures1Dec 8, 2020
Hearing impairment1Sep 23, 2020
Humeral cortical thickening1Feb 12, 2021
Hyperammonemia1Aug 29, 2019
Hypertrichosis1Feb 12, 2021
Hypoplasia of dental enamel1Sep 16, 2019
Increased susceptibility to fractures2Sep 16, 2019
Infantile axial hypotonia1Feb 12, 2021
Inflammation of the large intestine1Aug 7, 2019
Intellectual disability1Aug 29, 2019
Intellectual disability, mild1Oct 10, 2019
Intellectual disability, moderate1Sep 23, 2019
Intellectual disability, severe2Feb 12, 2021
Intrauterine growth retardation1Aug 29, 2019
Irritability1Oct 17, 2019
Kyphosis1Aug 7, 2019
Limb dystonia1Oct 17, 2019
Loss of consciousness1Apr 30, 2020
Low back pain1Aug 7, 2019
Low-set ears1Feb 12, 2021
Macrocephalus2Sep 16, 2019
Microcephaly1Aug 29, 2019
Midface retrusion1Sep 16, 2019
Movement disorder1Feb 12, 2021
Muscular hypotonia of the trunk1Apr 30, 2020
Nail dysplasia2Sep 16, 2019
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Apr 5, 2021
Neuronal ceroid lipofuscinosis 31Feb 13, 2021
Obtuse angle of mandible1Sep 16, 2019
Periodontitis1Sep 16, 2019
Primary autosomal recessive microcephaly 21Feb 16, 2021
Progressive gait ataxia1Apr 30, 2020
Progressive sensorineural hearing impairment1Apr 30, 2020
Prolonged neonatal jaundice1Jan 17, 2020
Rigidity1Feb 12, 2021
Sacroiliac joint synovitis1Aug 7, 2019
Scoliosis2Aug 29, 2019
Short finger1Sep 16, 2019
Short phalanx of finger1Aug 29, 2019
Short stature2Sep 16, 2019
Skeletal dysplasia2Sep 16, 2019
Spasticity1Feb 12, 2021
Synovitis1Aug 7, 2019
Thoracic scoliosis1Sep 16, 2019
Thoracolumbar scoliosis1Feb 12, 2021
Waardenburg syndrome type 2A1Feb 25, 2021
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