IFT43

Chr 14AR

intraflagellar transport 43

Also known as: C14orf179, CED3, RP81, SRTD18

NCBI Gene: 112752 ENSG00000119650 UniProt: Q96FT9 OMIM: 614068

This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.603 OMIM phenotypes

Clinical Summary— IFT43

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Gene-Disease Validity (ClinGen)

ciliopathy · ARModerate

Moderate evidence — consider for supplementary testing

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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

41 unique Pathogenic / Likely Pathogenic· 112 VUS of 340 total submissions

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GeneReview available — IFT43

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.60LOEUF

pLI 0.000

Z-score -0.21

OE 1.06 (0.72–1.60)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.30Z-score

OE missense 1.08 (0.93–1.24)

132 obs / 122.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.06 (0.72–1.60)

0≤0.351.4

Missense OE?1.08 (0.93–1.24)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 16 / 15.1Missense obs/exp: 132 / 122.8Syn Z: -0.99

ClinVar Variant Classifications

340 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17

Likely Pathogenic24

VUS112

Likely Benign135

Benign22

Conflicting15

Pathogenic

Likely Pathogenic

112

VUS

135

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	13	3	1	0	17
Likely Pathogenic	20	2	1	1	24
VUS	2	95	13	2	112
Likely Benign	0	5	74	56	135
Benign	0	4	17	1	22
Conflicting	—				15
Total	35	109	106	60	325

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

View in ClinVar →

13 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap IFT43 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →