Cerebral Palsy
Gene: MCOLN1
MCOLN1 (mucolipin 1)
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 15 panels
1 review
Luisa Weiss (University of Adelaide)
PMID 12182165 presents a case study of 28 patients with Mucolipidosis Type IV. A significant clinical overlap with CP-like encephalopathy is discussed and some of the patients are reported to present with a 'pure non-progressive neurologic deficit'. Other Mucolipidosis Type IV overviews (PMID 21763169) also discuss the clinical similarities and the phenotypic overlap between MLIV and CP.
Sources: LiteratureCreated: 19 Jun 2023, 3:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis IV MIM#252650
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mucolipidosis IV MIM#252650
- OMIM
- 605248
- Clinvar variants
- Variants in MCOLN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Macrocephaly_Megalencephaly
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Corneal Dystrophy
- Syndromic Retinopathy
- Prepair 500+
- Cerebral Palsy
History Filter Activity
10 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mcoln1 has been classified as Green List (High Evidence).
10 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mcoln1 has been classified as Green List (High Evidence).
19 Jun 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: MCOLN1 was added gene: MCOLN1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 12182165; 21763169 Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV MIM#252650 Review for gene: MCOLN1 was set to GREEN