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Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement (Assistance Publique Hopitaux de Paris), UFGD

General information

Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, UFGD
Assistance Publique Hopitaux de Paris
47-83 Boulevard de l'Hopital
Paris
France - 75013

Organization ID: 506058

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 85

Gene

GeneSubmissionsLast Updated
ADNP3Jan 17, 2023
ANKRD112Aug 1, 2017
ANOS11Aug 1, 2017
AP4S11Aug 1, 2017
ARF110Mar 15, 2022
ARHGEF91Aug 1, 2017
ARID1B1Aug 1, 2017
ATP1A32Aug 1, 2017
ATRX1Aug 1, 2017
CAMTA11Aug 1, 2017
CLMP1Aug 1, 2017
COG52Aug 1, 2017
DYRK1A1Aug 1, 2017
EEF1B21Sep 6, 2019
EFTUD21Aug 1, 2017
FOXP11Aug 1, 2017
FOXP21Aug 1, 2017
GLDN1Feb 5, 2024
GNAS1Aug 1, 2017
GRIA31Aug 1, 2017
GRIN2B1Aug 1, 2017
HNRNPU1Aug 1, 2017
HPRT11Aug 1, 2017
IRAK1BP11Aug 1, 2017
KCNQ21Apr 10, 2020
KDM5C1Aug 1, 2017
KDM6A1Aug 1, 2017
KIF1A1Aug 1, 2017
LARS22Aug 1, 2017
LOC1027240581Aug 1, 2017
LOC1268060399Mar 15, 2022
MED13L1Aug 1, 2017
MFSD82Aug 1, 2017
MICU12Aug 1, 2017
MIR39111Aug 1, 2017
MNS11Feb 5, 2024
NAA101Aug 1, 2017
NFIX1Aug 1, 2017
PAK31Apr 25, 2019
PANK22Aug 1, 2017
PDE2A1Jan 24, 2020
PHIP1Aug 1, 2017
POGZ1Aug 1, 2017
PRODH1Aug 1, 2017
PTPN41Mar 3, 2021
RAI11Aug 1, 2017
SATB21Aug 1, 2017
SCN1A1Aug 1, 2017
SCN2A2Aug 1, 2017
SCN8A1Aug 1, 2017
SEMA6B2Feb 2, 2022
SLC6A11Aug 1, 2017
SLC6A1-AS11Aug 1, 2017
SMS1May 7, 2019
SOX51Aug 1, 2017
STXBP11Aug 1, 2017
SYNGAP12Aug 1, 2017
SYNGAP1-AS11Aug 1, 2017
TAF21Apr 13, 2021
TCF204Jan 17, 2019
TCF42Aug 1, 2017
TEX91Feb 5, 2024
UNC802Aug 1, 2017
VRK11Feb 8, 2021
ZEB21Aug 1, 2017
ZMYND111Aug 1, 2017

Condition

NameSubmissionsLast Updated
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Aug 1, 2017
Abnormal facial shape1Apr 10, 2020
Alpha thalassemia-X-linked intellectual disability syndrome1Aug 1, 2017
Autism2Nov 15, 2018
Autism Spectrum Disorder with Intellectual Disability1Aug 1, 2017
Autistic behavior1Apr 10, 2020
COG5-congenital disorder of glycosylation2Aug 1, 2017
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Aug 1, 2017
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Aug 1, 2017
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Aug 1, 2017
Childhood apraxia of speech1Aug 1, 2017
Chorea1Jan 24, 2020
Chromosome 2q32-q33 deletion syndrome1Aug 1, 2017
Coffin-Siris syndrome 11Aug 1, 2017
DYRK1A-related intellectual disability syndrome1Aug 1, 2017
Developmental and epileptic encephalopathy, 111Aug 1, 2017
Developmental and epileptic encephalopathy, 131Aug 1, 2017
Developmental and epileptic encephalopathy, 271Aug 1, 2017
Developmental and epileptic encephalopathy, 541Aug 1, 2017
Developmental and epileptic encephalopathy, 81Aug 1, 2017
EEG abnormality1Jan 24, 2020
Epicanthus1Apr 10, 2020
Failure to thrive1Nov 15, 2018
Generalized hypotonia3Jan 24, 2020
Heterotaxy, visceral, 9, autosomal, with male infertility1Feb 5, 2024
Hypogonadotropic hypogonadism 1 with or without anosmia1Aug 1, 2017
Hypotelorism1Jan 17, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Aug 1, 2017
Intellectual disability7Jan 17, 2023
Intellectual disability, autosomal dominant 301Aug 1, 2017
Intellectual disability, autosomal dominant 52Aug 1, 2017
Intellectual disability, autosomal dominant 91Aug 1, 2017
Intellectual disability, mild2Nov 15, 2018
Intellectual disability, moderate3Apr 10, 2020
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Aug 1, 2017
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Aug 1, 2017
Interictal EEG abnormality1Jan 24, 2020
Intestinal pseudo-obstruction1Aug 1, 2017
KBG syndrome2Aug 1, 2017
Kabuki syndrome 21Aug 1, 2017
Lamb-Shaffer syndrome1Aug 1, 2017
Lesch-Nyhan syndrome1Aug 1, 2017
Lethal congenital contracture syndrome 111Feb 5, 2024
Malan overgrowth syndrome1Aug 1, 2017
Mandibulofacial dysostosis-microcephaly syndrome1Aug 1, 2017
Microcephaly-thin corpus callosum-intellectual disability syndrome1Apr 13, 2021
Moderate global developmental delay1Sep 6, 2019
Mowat-Wilson syndrome1Aug 1, 2017
Myoclonic-astatic epilepsy1Aug 1, 2017
Myoclonus1Nov 15, 2018
Neuronal ceroid lipofuscinosis 72Aug 1, 2017
Non-syndromic intellectual disability1Aug 1, 2017
Ogden syndrome1Aug 1, 2017
Paroxysmal dystonia1Jan 24, 2020
Pectus excavatum1Nov 15, 2018
Periventricular nodular heterotopia 810Mar 15, 2022
Perrault syndrome 42Aug 1, 2017
Pigmentary pallidal degeneration2Aug 1, 2017
Pitt-Hopkins syndrome2Aug 1, 2017
Pontocerebellar hypoplasia type 1A1Feb 8, 2021
Proline dehydrogenase deficiency1Aug 1, 2017
Proximal myopathy with extrapyramidal signs2Aug 1, 2017
Pseudopseudohypoparathyroidism1Aug 1, 2017
Ptosis1Nov 15, 2018
Seizure2Apr 10, 2020
Severe myoclonic epilepsy in infancy1Aug 1, 2017
Smith-Magenis syndrome1Aug 1, 2017
Spastic paraplegia 52, autosomal recessive1Aug 1, 2017
Syndromic X-linked intellectual disability 941Aug 1, 2017
Syndromic X-linked intellectual disability Claes-Jensen type1Aug 1, 2017
Syndromic X-linked intellectual disability Snyder type1May 7, 2019
Syndromic intellectual disability1Aug 1, 2017