IFT80

Chr 3AR

intraflagellar transport 80

Also known as: ATD2, CFAP167, FAP167, SRTD2, WDR56

NCBI Gene: 57560 ENSG00000068885 UniProt: Q9P2H3 OMIM: 611177

The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.991 OMIM phenotype

Clinical Summary— IFT80

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Gene-Disease Validity (ClinGen)

asphyxiating thoracic dystrophy 2 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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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

70 unique Pathogenic / Likely Pathogenic· 357 VUS of 747 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?

0.99LOEUF

pLI 0.000

Z-score 1.60

OE 0.75 (0.57–0.99)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.51Z-score

OE missense 0.79 (0.72–0.86)

320 obs / 405.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.75 (0.57–0.99)

0≤0.351.4

Missense OE?0.79 (0.72–0.86)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 36 / 48.0Missense obs/exp: 320 / 405.7Syn Z: -0.28

ClinVar Variant Classifications

747 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38

Likely Pathogenic32

VUS357

Likely Benign233

Benign41

Conflicting34

Pathogenic

Likely Pathogenic

357

VUS

233

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	30	2	6	0	38
Likely Pathogenic	26	5	1	0	32
VUS	5	298	46	8	357
Likely Benign	0	5	125	103	233
Benign	0	2	35	4	41
Conflicting	—				34
Total	61	312	213	115	735

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

View in ClinVar →

21 pathogenic / likely-pathogenic (of 25) ClinVar copy-number / structural variants overlap IFT80 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →