CORO7

Chr 16

coronin 7

Also known as: 0610011B16Rik, CRN7, POD1

NCBI Gene: 79585 ENSG00000262246 OMIM: 611668

The protein regulates F-actin to facilitate anterograde transport from the Golgi apparatus to endosomes and helps maintain Golgi morphology. Mutations cause autosomal recessive developmental delay, intellectual disability, seizures, and microcephaly with onset in infancy or early childhood. The gene shows extremely low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde Golgi to endosome transport. The encoded protein has two tandem WD-40 domain repeats and localizes to the trans-Golgi network. The protein undergoes K33-linked polyubiquitination via an E3 ligase complex. It is thought to play an essential role in maintenance of Golgi apparatus morphology. Alternative splicing results in multiple transcripts variants; some of which form read-through transcripts with a neighboring gene. [provided by RefSeq, Dec 2016]

OMIM ResearchGenerating clinical summary…

LOEUF 1.02

Clinical Summary— CORO7

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

164 VUS of 185 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.02LOEUF

pLI 0.000

Z-score 1.44

OE 0.79 (0.62–1.02)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.19Z-score

OE missense 1.02 (0.95–1.09)

593 obs / 579.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.79 (0.62–1.02)

0≤0.351.4

Missense OE?1.02 (0.95–1.09)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 45 / 56.7Missense obs/exp: 593 / 579.8Syn Z: -1.07

ClinVar Variant Classifications

185 submitted variants in ClinVar

ClinVar

Classification Summary

VUS164

Likely Benign14

Benign4

164

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	163	1	0	164
Likely Benign	13	0	1	14
Benign	2	0	2	4
Total	178	1	3	182

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

View in ClinVar →

33 pathogenic / likely-pathogenic (of 44) ClinVar copy-number / structural variants overlap CORO7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →