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MEGF8

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Gene Facts External Data Attribution

HGNC Symbol
MEGF8 (HGNC:3233) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
multiple EGF like domains 8
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EGFL4, C19orf49
Alias symbols
SBP1, FLJ22365
GenCC Classifications
Definitive1 Strong2 Moderate2 Supportive1 (Read more about GenCC Classifications)
%HI
52.38(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD v4.0 pLI score)
LOEUF
0.7(Read more about gnomAD v4.0 LOEUF score)
pLI and LOEUF metrics based on ENST00000251268 transcript
ACMG SF v3.2 Gene?
No
Cytoband
19q13.2
Genomic Coordinates
GRCh37/hg19: chr19:42829787-42882917 NCBI Ensembl UCSC
GRCh38/hg38: chr19:42325635-42378765 NCBI Ensembl UCSC
MANE Select Transcript
NM_001271938.2 ENST00000251268.11 (Read more about MANE Select)
Function
Acts as a negative regulator of hedgehog signaling. {ECO:0000250|UniProtKB:P60882}. (Source: Uniprot)
Group By Activity Group By Gene-Disease Pair

Gene-Disease Validity

Gene Disease MOI Expert Panel Classification Report & Date
MEGF8
MEGF8-related Carpenter syndrome
MONDO:0013998
AR Craniofacial Malformations GCEP Moderate 12/23/2021
Lumping and Splitting is the process by which ClinGen curation groups determine which disease entity they will use for evaluation. Groups review current disease and/or phenotype assertions (e.g. OMIM MIM phenotypes) and select the included and excluded phenotypes according to current guidelines. MIM phenotypes represented below are those that were available on the stated evaluation date.
Included MIM Phenotypes :
No Included MIM Phenotypes were specified
Excluded MIM Phenotypes :
No Excluded MIM Phenotypes were specified
Evaluation Date :
No Date was specified
Curation Type :
No curation type was specified (Read more about curation type)
Rationales :
No rationales were specified (Read more about curation type)
PMIDs :
No PMIDs were specified
Notes :
No Notes were specified
Expert Panel:
No Secondary Contributors were specified
History:
None
Other Stuff:
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