Ttc21b omim

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August undefined, 2024

Webttc21b ID ZDB-GENE-031010-34 Name tetratricopeptide repeat domain 21B Symbol ttc21b Nomenclature History Previous Names. sb:cb947; Type protein_coding_gene ... OMIM … 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, …

Clinical features and TTC21B genotype of a child with

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. 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. camping in cabins in pa

Gene: TTC21B (Groopman et al 2024 - Genes with diagnostic …

WebFeb 17, 2015 · TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21B; TTC21B (OMIM - 612014) Genes & Proteins . Cytoplasmic dynein 2 intermediate chain 1 (UniProt - Q8WVS4) Similar Articles . To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation. WebTTC21B encodes the protein IFT139, a critical component of the retrograde transport system within the primary cilium. Biallelic, pathogenic TTC21B variants are associated … WebNM_024753.5(TTC21B):c.2758-2A>G AND Nephronophthisis 12 Clinical significance: Pathogenic (Last evaluated: Mar 1, 2011) Review status: (0/4) 0 stars out of maximum of 4 stars camping in buffalo ny

Entry - #613820 - NEPHRONOPHTHISIS 12; NPHP12 - OMIM

Ttc21b Mouse Gene Details tetratricopeptide repeat domain 21B ...

WebFeb 1, 2024 · A 29-year-old, primigravid woman was referred for genetic counseling at 15 weeks of gestation because of abnormal ultrasound findings of short limbs, a narrow chest and bilateral polydactyly of the hands and feet, consistent with a diagnosis of SRPS type III (Fig. 1).Her husband was 31 years old. 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: camping in bryce canyon utWebJan 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 ... camping in calhoun ga

"WebJul 9, 2003 · Acrocallosal syndrome (ACLS) (OMIM 200990), an autosomal recessive disorder, is characterized by macrocephaly ... Heterozygous pathogenic variants in … " - Ttc21b omim

Ttc21b omim

TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING …

WebNov 15, 2024 · Author summary TTC21B in humans is a known ciliopathy gene and contributes to the pathophysiology of a number of ciliopathies. Mice homozygous for a null allele of Ttc21b also have a spectrum of ciliopathy phenotypes, including microcephaly (small brain). Further work has shown that the severity of the microcephaly significantly … WebA 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 …

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WebMay 6, 2024 · TTC21B:tetratricopeptide repeat domain 21B [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 2q24.3 Genomic location: Chr2: 165884002 (on Assembly GRCh38) Chr2: 166740512 (on Assembly GRCh37) Preferred name: NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) Web604766), ITGB4 (OMIM# 147557) and TTC21B (OMIM# 612014); (iii) X-linked recessive model, for example, NXF5 (OMIM# 300319). The COL4A4 gene (OMIM 120131) locates in the 2q36.3 and encodes one of the six subunits of type IV col-lagen, the major structural composition of basement mem-

WebJan 30, 2024 · Tubulointerstitial kidney diseaseGene: TTC21B. Green List (high evidence) TTC21B (tetratricopeptide repeat domain 21B) EnsemblGeneIds (GRCh38): …

WebTTC21B 199 tests. Also known as: ATD4, CFAP60, FAP60, FLA17, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1, TTC21B ... (HPO) and OMIM. For more information about the disease, please go to the disease information page. Imported from Human Phenotype Ontology (HPO) Show all Hide all. Abnormality of the genitourinary system. 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, 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 ...

WebOct 20, 2024 · NPHP 12 is caused by the pathogenic mutation of gene TTC21B (OMIM accession number * 612014). Up to recently, only 5 childhood-onset cases have been reported in ... It also found that pathogenic variants in TTC21B can simultaneously cause glomerular lesions characterized by FSGS and tubular lesions characterized by interstitial ...

WebTTC21B - 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. first world war time periodWebJan 23, 2011 · Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with … first world war\\u0027s black tom explWebOMIM:612014 TTC21B. UCSC:Q7Z4L5 TTC21B. Reference Transcript RefSeq:NM_024753.4 TTC21B; Other Identifiers 11735944_x_at 11753947_a_at 16904580 16904588 … camping in cape henlopen delawareWebTTC21B: OMIM - Gene: 612014: OMIM - Diseases: NPHP1 (nephronophthisis, type 1) NPHP12 (JBTS11) SRTD4 (ATD4) HGMD: TTC21B: GeneCards: TTC21B: GeneTests: … firstwrap login adviserWebJun 1, 2024 · NPHP 12 is caused by the pathogenic mutation of gene TTC21B (OMIM accession number * 612014). Up to recently, only 5 childhood-onset cases have been reported in Chinese (Jian et al., 2024; Yue et ... camping in carbis bayWebJun 18, 2024 · The deduced 1,317-amino acid protein has a molecular mass of approximately 150 kD and is predicted to contain 11 tetratricopeptide repeat (TPR) … camping in call of dutyWebNephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively … camping in cannon beach