Skeletal dysplasia
Gene: NIPBL
Limb hypoplasia-reduction defects gp of SD, several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 1 122470
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NIPBL; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 10:15 a.m.
Tier 3Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 1 122470
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: NIPBL were set to
Added phenotypes Cornelia de Lange syndrome 1 122470 for gene: NIPBL
Source NHS GMS was added to NIPBL. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for NIPBL were set to Cornelia de Lange syndrome 1 122470
Mode of inheritance for NIPBL was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NIPBL was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
NIPBL was created by sleigh
NIPBL was added to Unexplained skeletal dysplasiapanel. Sources: