Inherited renal cancer
Gene: MLH1
MLH1 (mutL homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 36 panels
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 36 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.Created: 1 Feb 2019, 10:04 a.m.
Lara Hawkes (Genomics England)
Ellen McDonagh (Genomics England Curator)
This gene was added after request from Clare Turnbull (Cancer Clinical Team, Genomics England), and confirmed by Lara Hawkes (Cancer Clinical Team, Genomics England) that this addition is correct.Created: 20 Aug 2018, 1:27 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Removed
- Expert List
- Expert list
- Tags
- OMIM
- 120436
- Clinvar variants
- Variants in MLH1
- Penetrance
- None
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Intellectual disability
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Additional findings health related - adult specific
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Additional findings health related
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: MLH1.
1 Feb 2019, Gel status: 0
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: mlh1 has been removed from the panel.
30 Jan 2019, Gel status: 2
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Jan 2019, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: mlh1 has been classified as Amber List (Moderate Evidence).
30 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: MLH1 was added gene: MLH1 was added to Inherited renal cancer. Sources: Expert List Mode of inheritance for gene: MLH1 was set to