ERICH5

Chr 8

glutamate rich 5

Also known as: C8orf47

NCBI Gene: 203111 ENSG00000177459 UniProt: Q6P6B1 OMIM: 620895

ERICH5 encodes a protein containing glutamate-rich and histidine-rich domains whose specific cellular function remains unclear. Mutations cause autosomal recessive intellectual disability with seizures and dysmorphic features, typically manifesting in early childhood. The gene shows high tolerance to loss-of-function variants in the general population, consistent with a recessive inheritance pattern.

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 1.21

Clinical Summary— ERICH5

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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

48 VUS of 52 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?

1.21LOEUF

pLI 0.000

Z-score 1.03

OE 0.69 (0.42–1.21)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.15Z-score

OE missense 1.03 (0.92–1.16)

199 obs / 192.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.69 (0.42–1.21)

0≤0.351.4

Missense OE?1.03 (0.92–1.16)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 9 / 13.0Missense obs/exp: 199 / 192.9Syn Z: 0.64

ClinVar Variant Classifications

52 submitted variants in ClinVar

ClinVar

Classification Summary

VUS48

Likely Benign4

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	48	48
Likely Benign	4	4
Benign	0	0
Total	52	52

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

View in ClinVar →

34 pathogenic / likely-pathogenic (of 36) ClinVar copy-number / structural variants overlap ERICH5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →