Franklin by Genoox

GenCC Ref: GENCC:000113

Franklin by Genoox

This page is a summary of submissions provided by Franklin by Genoox. Click here to be notified about GenCC updates.

Genoox is a Healthcare Technology company developing an AI-based interpretation engine for genomic information. Our engine is built on top of Franklin Community Data - a unique crowdsourced dataset that makes our solution accurate and based on real-world evidence. To date, the interpretation engine supports multiple applications including rare diseases, oncology, hereditary cancer, carrier screening, and custom panels.


Website
Personnel
Yaron Einhorn, Coordinator, yaron@genoox.com

Assertion Criteria

Submissions

58 total number of submissions
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AD
11/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Examining a cohort of patients with extreme microcephaly, from the Deciphering Developmental Disorde... Read more
congenital anomaly of kidney and urinary tract
AD
11/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Total 14 different heterozygous loss-of-function mutations in ZMYM2 gene in 15 unrelated Congenital... Read more
AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: 13 families with an anosmic form of IGD (Kallmann syndrome) were found to carry loss-of-function mut... Read more
AR
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: 13 families with an anosmic form of IGD (Kallmann syndrome) were found to carry loss-of-function mut... Read more
ocular motor apraxia, Cogan type
AD
11/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: 15 individuals from six families with a clinical diagnosis of COMA underwent exome sequancing which... Read more
complex neurodevelopmental disorder
AD
10/01/2020
Evaluated
01/19/2021
Submitted
cone-rod synaptic disorder, congenital nonprogressive
AR
07/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Identification of Bi-allelic RIMS2 Variants in Seven Cases of CRSD from Four Unrelated Families. htt... Read more
genetic cerebral small vessel disease
AD
03/27/2022
Evaluated
03/31/2022
Submitted
AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Identification of pathogenic variants inGBF1 in four unrelated families with individuals affected by... Read more
cerebral folate deficiency
AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: In a trio-based genetic analysis on patients with CFD and identified de-novo mutation in CIC. additi... Read more
orofaciodigital syndrome
AR
07/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Described in this paper in a homozygous patient, as well as reporting previously other reported case... Read more
neurodevelopmental disorder with microcephaly and dysmorphic facies
AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: 10 individuals with a broad spectrum of neurodevelopmental phenotypes underwent DNA examination whic... Read more
AD
07/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Two unrelated families with hallmark ciliopathy phenotypes. In the first family, the proband present... Read more
AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Whole-exome sequencing was performed from DNA of the index case of AMC families. Heterozygous missen... Read more
AD
11/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Examining a cohort of patients with extreme microcephaly, from the Deciphering Developmental Disorde... Read more
familial thoracic aortic aneurysm and aortic dissection
AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: As part of Thoracic aortic aneurysm and dissection study conducted in France, two unrelated probands... Read more
female infertility
AR
08/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: whole-exome sequencing (WES) to identify four homozygous pathogenic variants in BTG4 that are respon... Read more
Hermansky-Pudlak syndrome
AR
07/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: Two unrelated patients with distinct homozygous variants of the BLOC1S5 gene and clincal signs compa... Read more

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.