Arthrogryposis
Gene: NALCN
.Recognised on G2P as disease causing. all missense/in frame. Mutations reported in at least 14 unrelated patientsCreated: 22 Dec 2016, 4:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266
Publications
Phenotypes for gene: NALCN were changed from Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266 to Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Green List (High Evidence).
Phenotypes for NALCN were set to Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266
Publications for NALCN were set to 25683120
Mode of inheritance for NALCN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
NALCN was added to Arthrogryposispanel. Sources: Literature
NALCN was added to Arthrogryposispanel. Sources: Expert list
NALCN was created by ellenmcdonagh