Early onset or syndromic epilepsy
Gene: KIF1BP
previuosly known as KIAA1279. Traditionally, this variant this gene are not associated with seizures per se. Differential diagnosis would include: Loeys-Dietz syndrome (LDS), Marfan syndrome (MFS), and Mowat-Wilson syndrome (MOWS). AR Goldberg-Shprintzen megacolon syndrome (GOSHS). No mention on OMIM that epilepsy is a feature. Brooks et al 2005 - says that patients with GOSHS discussed in published reports - neurological symptoms not studied in detail. Large consang Moroccan family with HSCR reported by Brooks et al, 1999 - hom nonsense variant detected. Also looked at a consang British-Pakistani family - diff hom nonsense variant. No mention that either of these families had epilepsy. Salehpour et al, 2017 - 16 year old Iranian patient GOSHS and refractory seizures - hom nonsense variant detected. They have a table of other reported mutations of which there are 7 all are nonsense or lead to premature stop. No mention in the clinical features of any of these other cases of seizures (table 1).Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome, 609460
Publications
As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber.Created: 15 Aug 2019, 8:39 a.m. | Last Modified: 15 Aug 2019, 8:39 a.m.
Panel Version: 1.224
Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary: although the association with GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME is strong, there is little direct evidence for seizures (PMID:28277559 identifies one case). Therefore consider demoting KIF1BP.Created: 15 Aug 2019, 8:39 a.m. | Last Modified: 15 Aug 2019, 10:28 a.m.
Panel Version: 1.236
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
PMID:28277559: Salehpour et al., 2017 report a 16 year old male from Iran with features of Goldberg-Shprintzen syndrome plus refractory seizures. He had a nonsense homozygous variant in KIAA1279/KIF1BP (p.Q326X).Created: 22 Jul 2019, 12:51 p.m. | Last Modified: 22 Jul 2019, 12:51 p.m.
Panel Version: 1.176
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBPCreated: 6 Sep 2019, 2:59 p.m. | Last Modified: 6 Sep 2019, 2:59 p.m.
Panel Version: 1.263
added new-gene-name tagCreated: 9 Dec 2016, 3:22 p.m.
Changed the gene symbol back to KIAA1279 in order to be consistent with PanelApp's HGNC versioning, prior to update.Created: 8 Dec 2016, 11:26 a.m.
This gene symbol was converted from KIAA1279 to KIF1BP (new HGNC-approved symbol), as confirmed in HGNC, G2P and OMIM databases.Created: 1 Feb 2016, 9:45 a.m.
The HGNC-approved symbol for this gene is KIF1BP (confirmed on G2P and OMIM).Created: 20 Jan 2016, 12:53 p.m.
Comment on phenotypes: Phenotype sourced from reviewers, OMIM and G2P.Created: 20 Jan 2016, 12:52 p.m.
Tag new-gene-name tag was added to gene: KIF1BP.
Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to KIF1BP.
Source NHS GMS was added to KIF1BP.
Ellen McDonagh: Comment on phenotypes: Phenoty
Publications for gene: KIF1BP were set to 15883926; 28277559
Publications for gene: KIF1BP were set to 15883926; 28277559
Source Victorian Clinical Genetics Services was removed from KIF1BP. Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome to Goldberg-Shprintzen megacolon syndrome 609460 Publications for gene KIF1BP were changed from Brooks et al (2005) Am J Hum Genet 77: 120_126 to 15883926; 28277559
Victorian Clinical Genetics Services was added to KIF1BP. Panel: Genetic Epilepsy Syndromes
KIF1BP was added to Genetic Epilepsy Syndromes panel. Sources: UKGTN,Expert Review Green
KIF1BP was created by Sarah Leigh