Intellectual disability - microarray and sequencing
Gene: KIF4A
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are at least four unrelated cases with hemizygous variants in KIF4A gene and presenting with intellectual disability. This evidence is sufficient for promoting to GREEN rating at the next major review.Created: 2 May 2023, 1:09 p.m. | Last Modified: 2 May 2023, 1:09 p.m.
Panel Version: 5.72
PMID:24812067 reported a family in which five males spanning three generations had intellectual disability, speech delay and global developmental delay and four of these males developed seizures in late childhood–adolescence.
PMID:34346154 reported 11 unrelated cases expanding the phenotypic spectrum to include developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of clinical manifestations. Of eight patients with congenital anomalies, one each had severe to profound developmental delay, mild psychomotor delay and severe psychomotor delay, while the remaining five had no developmental delays. However, all three patients without congenital structural anomalies had intellectual disability (borderline intellectual functioning in one case), speech delay and global developmental delay, while motor delay and autism spectrum disorder was reported in two cases each. Isolated febrile seizure was reported in one case.
This gene has been reported in OMIM (MIM #300923) and Gene2Phenotype (with 'limited' rating) on the basis of one family from PMID:24812067.Created: 2 May 2023, 1:03 p.m. | Last Modified: 2 May 2023, 1:07 p.m.
Panel Version: 5.71
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
?Intellectual developmental disorder, X-linked 100, OMIM:300923
Publications
Further 11 families reported. Major structural brain abnormalities present in at least 3 (hydrocephalus), variable ID in several.Created: 11 Oct 2021, 7:17 a.m. | Last Modified: 11 Oct 2021, 7:17 a.m.
Panel Version: 3.1332
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 100, MIM# 300923
Publications
Four males in one family with the same variant reported. Phenotypes include mild to moderate intellectual disability and epilepsy (PMID: 24812067). Cannot rule out founder effect and falls short of 3+ unrelated individuals with variant in the gene.Created: 13 Dec 2017, 10:16 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
INTELLECTUAL DISABILITY
Publications
Tag Q2_23_promote_green was removed from gene: KIF4A.
Source NHS GMS was added to KIF4A. Source Expert Review Green was added to KIF4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Tag Q2_23_promote_green tag was added to gene: KIF4A.
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Publications for gene: KIF4A were set to 24812067; 34346154
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Phenotypes for gene: KIF4A were changed from INTELLECTUAL DISABILITY to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
Publications for gene: KIF4A were set to 24812067; 34346154
Publications for gene: KIF4A were set to 24812067; 34346154
Publications for gene: KIF4A were set to 24812067
Gene: kif4a has been classified as Amber List (Moderate Evidence).
Source Victorian Clinical Genetics Services was added to KIF4A.
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
KIF4A was added to Intellectual disabilitypanel. Sources: Expert Review Red
KIF4A was created by ellenmcdonagh