GTPBP6

Chr Y

GTP binding protein 6

Also known as: PGPL

NCBI Gene: 8225 ENSG00000292358 UniProt: O43824 OMIM: 300124

This gene encodes a GTP binding protein located in the pseudoautosomal region of the X and Y chromosomes and is extremely intolerant to loss-of-function variants (pLI ~1). Mutations cause neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed puberty, with an X-linked inheritance pattern affecting primarily males but with potential for affected females due to the pseudoautosomal location.

OMIM ResearchSummary from RefSeq

This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.55

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.55LOEUF

pLI 0.000

Z-score 0.18

OE 0.94 (0.59–1.55)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.77Z-score

OE missense 1.36 (1.23–1.50)

262 obs / 193.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.94 (0.59–1.55)

0≤0.351.4

Missense OE?1.36 (1.23–1.50)

0≤0.61.4

Synonymous OE?1.33

0≤1.21.6

LoF obs/exp: 11 / 11.7Missense obs/exp: 262 / 193.0Syn Z: -2.52

Exome coverage (gnomAD): 5 of 10 coding exons well covered in gnomAD exomes; exons 1, 2, 3, 4 poorly covered; exon 8 marginal. Genomes: all 10.? see exons ↓