Ttc21b omim
WebJul 9, 2003 · Acrocallosal syndrome (ACLS) (OMIM 200990), an autosomal recessive disorder, is characterized by macrocephaly ... Heterozygous pathogenic variants in … Webttc21b ID ZDB-GENE-031010-34 Name tetratricopeptide repeat domain 21B Symbol ttc21b Nomenclature History Previous Names. sb:cb947; Type protein_coding_gene ... OMIM …
Ttc21b omim
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WebMar 29, 2024 · Summary. This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, …
WebSep 1, 2024 · To determine the effect of Ttc21b deficiency in a rapidly progressing ADPKD mouse model, we deleted Ttc21b alone and together with Pkd2 at P0 and examined the … WebJan 23, 2011 · Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with diverse ciliopathy phenotypes in humans.
WebDiscover Ttc21b's significant phenotypes, expression, images, histopathology and more. Data for gene Ttc21b is all freely available for download. Cite IMPC; Help; IMPC Cloud; ... OMIM:263630: Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13: WebSep 26, 2016 · The variant found in TTC21B gene in the R98-443 case could also act as a modifier of the phenotype 19 although the high frequency of this variant in the population makes it unlikely.
WebSep 15, 2016 · MISCELLANEOUS. - Three patients classified as having Joubert syndrome had heterozygous mutations in TTC21B, no detailed clinical information was provided. - …
WebMalaCards based summary: Nephronophthisis 12, also known as joubert syndrome 11, is related to end stage renal disease and ciliopathy. An important gene associated with Nephronophthisis 12 is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways/superpathways are Signaling by Hedgehog and Organelle biogenesis … sharleen hutchinson deadWebTTC21B - Explore an overview of TTC21B, with a histogram displaying coding mutations, ... OMIM 612014 Transcript ENST00000243344.7 Genome Browsers Ensembl, UCSC Copy Number CONAN NCBI Entrez Gene 79809 CCDS CCDS33315.1 UniProt Q7Z4L5 Pfam Q7Z4L5 Atlas Genetic Oncology n/a HGNC 25660. Drug resistance. sharleen joynt flare recapWebTTC21B encodes the protein IFT139, a critical component of the retrograde transport system within the primary cilium. Biallelic, pathogenic TTC21B variants are associated … population of greensboro nc msaWebMar 29, 2024 · Summary. This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic ... population of greenland todayWebA number sign (#) is used with this entry because nephronophthisis-12 (NPHP12) is caused by homozygous or compound heterozygous mutation in the TTC21B gene (612014) on … sharleen joynt ethnicityWebFeb 18, 2024 · Title: A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. TTC21B contributes pathogenic alleles to approximately 5% of ciliopathy cases. Our data illustrate how genetic lesions can be both causally associated with diverse ciliopathies and interact in trans with other disease-causing genes. sharleen joynt flare bacheloretteWebJan 24, 2024 · We prioritized TTC28 because variants in TTC7A (OMIM: 609332), a member of the same gene family, causes autosomal recessive gastrointestinal defects, and variants in TTC21B (OMIM: 612014) are ... sharleen joynt flare