GAS7

Chr 17

growth arrest specific 7

NCBI Gene: 8522 ENSG00000007237 UniProt: O60861 OMIM: 603127

Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells, particularly mature cerebellar Purkinje neurons, and promotes maturation and morphological differentiation of cerebellar neurons. Mutations cause autosomal recessive spastic paraplegia with cerebellar ataxia and intellectual disability. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of function has severe consequences for neurodevelopment.

OMIM ResearchSummary from RefSeq, UniProt

Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.36

Clinical Summary— GAS7

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.

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ClinVar Variants

58 VUS of 121 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.36LOEUF

pLI 0.852

Z-score 4.33

OE 0.18 (0.10–0.36)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.33Z-score

OE missense 0.62 (0.55–0.70)

184 obs / 297.0 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.18 (0.10–0.36)

0≤0.351.4

Missense OE?0.62 (0.55–0.70)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 6 / 32.7Missense obs/exp: 184 / 297.0Syn Z: -0.64

ClinVar Variant Classifications

121 submitted variants in ClinVar

ClinVar

Classification Summary

VUS58

Benign43

VUS

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	58	0	0	58
Likely Benign	0	0	0	0
Benign	1	39	3	43
Total	59	39	3	101

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

View in ClinVar →

11 pathogenic / likely-pathogenic (of 31) ClinVar copy-number / structural variants overlap GAS7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →