Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire - Submitter

Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire (Universite Libre de Bruxelles)

General information

Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire
Universite Libre de Bruxelles
Brussels
Belgium
https://iribhm.org/
Organization ID: 507190

Assertion criteria

Level: Assertion criteria provided

ACMG Guidelines, 2015

Summary of submissions to ClinVar

Total submissions: 59

Gene

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Gene	Submissions	Last Updated
AP4M1	1	Dec 13, 2020
ASPM	13	Dec 13, 2020
BLM	2	Sep 13, 2019
CDK5RAP2	3	Sep 13, 2019
CEP135	3	Sep 13, 2019
CEP152	3	Dec 13, 2020
DNAH2	6	Dec 13, 2020
ERCC8	1	Sep 13, 2019
ERCC8-AS1	1	Sep 13, 2019
IGF2BP3	1	Dec 13, 2020
KIF11	1	Sep 13, 2019
KNL1	1	Sep 13, 2019
LIG4	2	Sep 13, 2019
MCPH1	3	Dec 13, 2020
PNKP	1	Dec 13, 2020
RTTN	1	Dec 13, 2020
TRAPPC9	1	Dec 13, 2020
TRMT10A	1	Sep 13, 2019
TSR1	1	Dec 13, 2020
TUBA1A	1	Sep 13, 2019
TUBGCP6	2	Sep 13, 2019
WDR62	11	Dec 13, 2020

Condition

Name	Submissions	Last Updated
Bloom syndrome	2	Sep 13, 2019
Cockayne syndrome type 1	1	Sep 13, 2019
DNA ligase IV deficiency	2	Sep 13, 2019
Hereditary spastic paraplegia 50	1	Dec 13, 2020
Intellectual disability, autosomal recessive 13	1	Dec 13, 2020
Lissencephaly due to TUBA1A mutation	1	Sep 13, 2019
Microcephalic primordial dwarfism due to RTTN deficiency	1	Dec 13, 2020
Microcephaly 1, primary, autosomal recessive	3	Dec 13, 2020
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	11	Dec 13, 2020
Microcephaly 3, primary, autosomal recessive	3	Sep 13, 2019
Microcephaly 4, primary, autosomal recessive	1	Sep 13, 2019
Microcephaly 5, primary, autosomal recessive	13	Dec 13, 2020
Microcephaly 8, primary, autosomal recessive	3	Sep 13, 2019
Microcephaly 9, primary, autosomal recessive	3	Dec 13, 2020
Microcephaly and chorioretinopathy 1	2	Sep 13, 2019
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	1	Sep 13, 2019
Microcephaly, seizures, and developmental delay	1	Dec 13, 2020
Microcephaly, short stature, and impaired glucose metabolism 1	1	Sep 13, 2019
Primary microcephaly	8	Dec 13, 2020

ClinVar