CORO1A

Chr 16AR

coronin 1A

Also known as: CLABP, CLIPINA, HCORO1, IMD8, TACO, p57

NCBI Gene: 11151 ENSG00000102879 UniProt: P31146 OMIM: 605000

This gene encodes coronin-1A, a cytoskeletal protein that regulates cell motility through plasma membrane invagination and protrusion formation, and prevents phagosome-lysosome fusion in mycobacteria-infected cells. Mutations cause autosomal recessive immunodeficiency 8, a severe combined immunodeficiency typically presenting in infancy. The gene is highly constrained against loss-of-function variation (pLI 0.97, LOEUF 0.32), indicating that functional copies are essential for normal development.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

ARLOEUF 0.321 OMIM phenotype

Clinical Summary— CORO1A

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Gene-Disease Validity (ClinGen)

severe combined immunodeficiency due to CORO1A deficiency · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

18 unique Pathogenic / Likely Pathogenic· 135 VUS of 385 total submissions

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GeneReview available — CORO1A

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.32LOEUF

pLI 0.970

Z-score 3.69

OE 0.10 (0.04–0.32)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.48Z-score

OE missense 0.58 (0.51–0.66)

162 obs / 278.2 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.10 (0.04–0.32)

0≤0.351.4

Missense OE?0.58 (0.51–0.66)

0≤0.61.4

Synonymous OE?1.22

0≤1.21.6

LoF obs/exp: 2 / 19.7Missense obs/exp: 162 / 278.2Syn Z: -1.85

ClinVar Variant Classifications

385 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9

Likely Pathogenic9

VUS135

Likely Benign213

Benign9

Conflicting3

Pathogenic

Likely Pathogenic

135

VUS

213

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	6	2	1	0	9
Likely Pathogenic	7	2	0	0	9
VUS	3	123	7	2	135
Likely Benign	0	2	85	126	213
Benign	0	0	5	4	9
Conflicting	—				3
Total	16	129	98	132	378

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

176 pathogenic / likely-pathogenic (of 191) ClinVar copy-number / structural variants overlap CORO1A — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →