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Cytogenetics and Genomics Lab (Cyprus Institute of Neurology and Genetics)

General information

Cytogenetics and Genomics Lab
Cyprus Institute of Neurology and Genetics
6 International Airport Av
Nicosia
Nicosia
Cyprus - 2370
https://www.cing.ac.cy/en/about-us/biomedical-sciences-/cg
Organization ID: 507045

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 27

Gene

GeneSubmissionsLast Updated
AGTPBP11Nov 13, 2020
CNOT31Nov 13, 2020
COL27A11May 1, 2020
GAMT1Nov 13, 2020
GH-LCR2Jul 24, 2023
HECW22Nov 13, 2020
IRAK1BP11Nov 13, 2020
KAT6A1Nov 13, 2020
KDM6A1Nov 13, 2020
KLHL401Jul 24, 2023
LOC1027240581Oct 25, 2022
LOC1217406381Nov 13, 2020
PCNT1Nov 13, 2020
PHIP1Nov 13, 2020
PIEZO22Nov 13, 2020
POMGNT12Nov 13, 2020
PXDN1Nov 13, 2020
SCN1A1Oct 25, 2022
SCN2A1Jul 24, 2023
SCN4A2Jul 24, 2023
SNHG141Nov 13, 2020
SPR1Nov 13, 2020
STXBP11Oct 25, 2022
TFAP2A1Nov 13, 2020
TFAP2A-AS21Nov 13, 2020
TSPAN11Nov 13, 2020
TUBA1A1Oct 25, 2022
UBE3A1Nov 13, 2020

Condition

NameSubmissionsLast Updated
Abnormal chromosome morphology1Aug 2, 2019
Angelman syndrome1Nov 13, 2020
Anterior segment dysgenesis 71Nov 13, 2020
Arthrogryposis, distal, with impaired proprioception and touch2Nov 13, 2020
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Nov 13, 2020
Branchiooculofacial syndrome1Nov 13, 2020
Congenital myopathy 22B, severe fetal2Jul 24, 2023
Deficiency of guanidinoacetate methyltransferase1Nov 13, 2020
Developmental and epileptic encephalopathy, 111Jul 24, 2023
Developmental and epileptic encephalopathy, 41Oct 25, 2022
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Nov 13, 2020
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Nov 13, 2020
Kabuki syndrome 21Nov 13, 2020
Lissencephaly due to TUBA1A mutation1Oct 25, 2022
Microcephalic osteodysplastic primordial dwarfism type II1Nov 13, 2020
Muscle eye brain disease2Nov 13, 2020
Nemaline myopathy 81Jul 24, 2023
Neurodegeneration, childhood-onset, with cerebellar atrophy1Nov 13, 2020
Neurodevelopmental disorder with hypotonia, seizures, and absent language2Nov 13, 2020
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Nov 13, 2020
Recurrent spontaneous abortion1Aug 2, 2019
Steel syndrome1May 1, 2020
Williams syndrome1Sep 23, 2020
not provided1Oct 25, 2022