Summary Statistics:
Gene Score: 1
Relevance to Autism
De novo loss-of-function (LoF) variants in the KATNAL2 gene were identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified KATNAL2 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889).
Molecular Function
Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays
References
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
ID, ASD or autistic traits
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Support
Knockout of Katnal2 Leads to Autism-like Behaviors and Developmental Delay in Zebrafish
ASD, DD
Recent Recommendation
ASD
Recent Recommendation
Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos.
Recent Recommendation
A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated Phenotype Discovery in Developing Neurons.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
GEN369R001
splice_site_variant
c.510+1G>A
De novo
Simplex
GEN369R002a
splice_site_variant
De novo
Simplex
GEN369R002b
splice_site_variant
c.995+1G>C
De novo
Simplex
GEN369R003
frameshift_variant
c.383del
p.Pro128ArgfsTer11
Familial
Maternal
Simplex
GEN369R004
missense_variant
c.790C>T
p.Arg264Trp
Familial
Paternal
Simplex
GEN369R005
frameshift_variant
AC>A
Unknown
Unknown
GEN369R006
splice_site_variant
c.673+1G>A
Unknown
Unknown
GEN369R007
stop_gained
c.436C>T
p.Arg146Ter
Unknown
Unknown
GEN369R008
missense_variant
c.730T>C
p.Phe244Leu
Unknown
Unknown
GEN369R009
missense_variant
c.908G>A
p.Arg303Gln
Unknown
Unknown
GEN369R010
missense_variant
c.740C>T
p.Ser247Phe
Unknown
Unknown
GEN369R011
missense_variant
c.1022G>A
p.Arg341His
Unknown
Unknown
GEN369R012
missense_variant
c.1045G>A
p.Asp349Asn
Unknown
Unknown
GEN369R013
missense_variant
c.907C>T
p.Arg303Trp
Unknown
Unknown
GEN369R014
stop_gained
c.157C>T
p.Gln53Ter
Familial
Maternal
Multiplex
GEN369R015
frameshift_variant
c.429del
p.Ser144GlnfsTer5
De novo
GEN369R016
missense_variant
c.727T>C
p.Phe243Leu
De novo
GEN369R017
missense_variant
c.664G>A
p.Gly222Ser
Familial
Paternal
Simplex
GEN369R018
missense_variant
c.664G>A
p.Gly222Ser
Familial
Maternal
Simplex
GEN369R019
missense_variant
c.743C>T
p.Ala248Val
Familial
Maternal
GEN369R020
stop_gained
c.160C>T
p.Gln54Ter
Familial
Maternal
Multiplex
GEN369R021
frameshift_variant
c.425del
p.Asp142AlafsTer7
Familial
Maternal
Multiplex
GEN369R022
copy_number_loss
Familial
Paternal
Multiplex
GEN369R023
splice_site_variant
c.967+1G>A
Familial
Maternal
GEN369R024
frameshift_variant
c.723del
p.Ser242GlnfsTer5
Familial
Maternal
GEN369R025
frameshift_variant
c.384del
p.Gln129LysfsTer10
Familial
Paternal
Simplex
GEN369R026
stop_gained
c.622C>T
p.Arg208Ter
Unknown
GEN369R027
stop_gained
c.622C>T
p.Arg208Ter
Unknown
GEN369R028
stop_gained
c.1321G>T
p.Glu441Ter
Unknown
GEN369R029
stop_gained
c.1321G>T
p.Glu441Ter
Unknown
GEN369R030
frameshift_variant
c.769del
p.Ser257ValfsTer10
Unknown
GEN369R031
stop_gained
c.730C>T
p.Arg244Ter
Unknown
GEN369R032
missense_variant
c.1286C>T
p.Pro429Leu
Familial
Maternal
GEN369R033
missense_variant
c.1165G>T
p.Gly389Cys
Unknown
Simplex
GEN369R034
missense_variant
c.1165G>T
p.Gly389Cys
Unknown
Simplex
GEN369R035
missense_variant
c.1435T>A
p.Tyr479Asn
Unknown
GEN369R036
missense_variant
c.953T>C
p.Leu318Pro
Unknown
GEN369R037
missense_variant
c.1391C>T
p.Pro464Leu
Unknown
GEN369R038
missense_variant
c.1106G>A
p.Arg369His
Unknown
Simplex
GEN369R039
missense_variant
c.1106G>A
p.Arg369His
Unknown
GEN369R040
missense_variant
c.1201C>T
p.Arg401Trp
Unknown
Simplex
GEN369R041
missense_variant
c.1508T>G
p.Met503Arg
Unknown
GEN369R042
missense_variant
c.1084C>T
p.Arg362Trp
Unknown
Simplex
GEN369R043
missense_variant
c.589G>A
p.Ala197Thr
Unknown
GEN369R044
missense_variant
c.1037C>T
p.Ala346Val
Unknown
GEN369R045
missense_variant
c.1037C>T
p.Ala346Val
Unknown
GEN369R046
frameshift_variant
c.1217_1218insCT
p.Leu406PhefsTer19
Unknown
GEN369R047
frameshift_variant
c.798del
p.Ser267AlafsTer11
Unknown
GEN369R048
initiator_codon_variant
c.2T>G
p.Met1?
Unknown
GEN369R049
missense_variant
c.1435T>A
p.Tyr479Asn
Unknown
GEN369R050
missense_variant
c.837G>T
p.Trp279Cys
Unknown
GEN369R051
missense_variant
c.1202G>C
p.Arg401Pro
Unknown
GEN369R052
missense_variant
c.1085G>A
p.Arg362Gln
Unknown
GEN369R053
missense_variant
c.1211C>G
p.Thr404Arg
Unknown
GEN369R054
missense_variant
c.1037C>T
p.Ala346Val
Unknown
No Common Variants Available
18
Deletion-Duplication
16
Summary Statistics:
Show all nodes
Hide non-ASD
