Neurological segmental overgrowth
Gene: MAXEnsemblGeneIds (GRCh38): ENSG00000125952
EnsemblGeneIds (GRCh37): ENSG00000125952
OMIM: 154950, Gene2Phenotype
MAX is in 9 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 2:44 p.m. | Last Modified: 26 Sep 2024, 2:44 p.m.
Panel Version: 2.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by James Poulter, there is sufficient evidence available (three unrelated cases with the same p.Arg60Gln variant and functional studies) for the promotion of this gene to green rating in the next GMS update.Created: 18 Apr 2024, 7:43 p.m. | Last Modified: 18 Apr 2024, 7:43 p.m.
Panel Version: 2.12
PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.
Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.
This gene has been associated with relevant phenotypes in OMIM (MIM #620712).Created: 18 Apr 2024, 7:37 p.m. | Last Modified: 18 Apr 2024, 7:41 p.m.
Panel Version: 2.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polydactyly-macrocephaly syndrome, OMIM:620712
Publications
James Poulter (University of Leeds)
Recurrent de novo variant (p.Arg60Gln) identified in 3 unrelated individuals. Pathogenicity supported by functional analysis.
Sources: LiteratureCreated: 7 Mar 2024, 9:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrocephaly; Polydactyly; delayed ophthalmic development; autism
Publications
- PMID:38141607
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Polydactyly-macrocephaly syndrome, OMIM:620712
- OMIM
- 154950
- Clinvar variants
- Variants in MAX
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult solid tumours for rare disease
- Inherited phaeochromocytoma and paraganglioma
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Neurological segmental overgrowth
History Filter Activity
Removed Tag, Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: MAX. Tag Q2_24_NHS_review was removed from gene: MAX.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to MAX. Source Expert Review Green was added to MAX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: max has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MAX were changed from Macrocephaly; Polydactyly; delayed ophthalmic development; autism to Polydactyly-macrocephaly syndrome, OMIM:620712
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: MAX. Tag Q2_24_NHS_review tag was added to gene: MAX.
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: MAX were set to PMID:38141607
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
James Poulter (University of Leeds)gene: MAX was added gene: MAX was added to Neurological segmental overgrowth. Sources: Literature Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to PMID:38141607 Phenotypes for gene: MAX were set to Macrocephaly; Polydactyly; delayed ophthalmic development; autism Penetrance for gene: MAX were set to Complete Review for gene: MAX was set to GREEN