ClinGen

GenCC Ref: GENCC:000102

ClinGen

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

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.


Website
Personnel
Marina DiStefano, Coordinator
Email: mdistefa@broadinstitute.org

Assertion Criteria

Submissions

3468 total number of submissions
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mitochondrial disease
AR
11/20/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

The relationship between MICU1 and primary mitochondrial disease was evaluated using the... Read more

SYNCRIP-related neurodevelopmental disorder
AD
10/01/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

SYNCRIP encodes a nuclear ribonucleoprotein implicated in mRNA processing mechanisms. Read more

glycogen storage disease VI
AR
09/27/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

PYGL, glycogen storage disease VI (MONDO:0009294), autosomal recessive

PY... Read more

developmental delay with short stature, dysmorphic facial features, and sparse hair
AR
03/15/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

DPH1 is located on chromosome 17 at 17p13.3 and encodes for diphthamide biosynthesis 1, one of th... Read more

PALB2-related cancer predisposition
AD
08/29/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

PALB2 encodes a protein that directly interacts with BRCA2. PALB2 was first reported in relation... Read more

POLR3B-related disorder
AR
09/03/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

Biallelic POLR3B variants were first reported in association to neurologic disease in 2011 (Saits... Read more

atypical hemolytic-uremic syndrome
SD
06/27/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

CD46 was first reported in relation to semidominant atypical hemolytic uremic syndrome (aHUS) in... Read more

renal hypomagnesemia 3
AR
12/06/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

The CLDN16 gene is located on chromosome 3 at 3q28. CLDN16 encodes the renal ti... Read more

aniridia-cerebellar ataxia-intellectual disability syndrome
AR
01/23/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

ITPR1 encodes a calcium channel that releases calcium from the endoplasmic reticulum upo... Read more

syndromic complex neurodevelopmental disorder
AD
09/06/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

TRAF7 is a known mediator of the MAPK and NFKB signaling pathways and is involved in multiple bio... Read more

AR
11/13/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

Human pathogenic AGPAT2 variants were first reported in 2002 in association with autosom... Read more

cone-rod dystrophy 2
AD
12/06/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

General Description: The CRX gene was first reported in relation to retinal disease in 1994 (Evan... Read more

ATM-related cancer predisposition
AD
11/22/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

ATM was first reported in relation to autosomal dominant ATM-related cancer predisposition in 198... Read more

combined immunodeficiency
AD
12/10/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

The IRF4 gene encodes the transcription factor interferon regulatory factor 4. IRF4 is a member o... Read more

autosomal recessive spinocerebellar ataxia 10
AR
12/11/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

ANO10 was first reported in relation to autosomal recessive cerebellar ataxia in 2010 (V... Read more

X-linked dominant hypophosphatemic rickets
XL
09/16/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

PHEX was first reported in relation to X-linked dominant hypophosphatemic rickets in 1995 (The HY... Read more

prolidase deficiency
AR
04/01/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

The PEPD gene encodes the cytosolic enzyme prolidase. The enzyme specifically cleaves im... Read more

syndromic complex neurodevelopmental disorder
AR
02/07/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

TBCK was first reported in relation to autosomal recessive syndromic complex neurodevelo... Read more

TOR1AIP1-related myopathy
AR
11/12/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

TOR1AIP1 encodes TorsinA-interacting protein 1, which is also known as lamina-associated polypept... Read more

undetermined early-onset epileptic encephalopathy
AD
06/14/2018
Evaluated
12/05/2025
Submitted

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.