Genopathy
Gene-Disorder Association · Article
Gene
FAM177A1
Family With Sequence Similarity 177 Member A1
Disorder
Neurodevelopmental Disorder With White Matter Abnormalities And Gait Disturbance
First reported 2015
Supporting publications 1
Key publication · disorder Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.Cell reports · 2015
Manually curated
Association Review

In brief

The association between FAM177A1 (Family With Sequence Similarity 177 Member A1) and Neurodevelopmental Disorder With White Matter Abnormalities And Gait Disturbance is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 5
Symptoms 55
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
FAM177A1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Neurodevelopmental Disorder With White Matter Abnormalities And Gait Disturbance

The disorder

5 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

42 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

5 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

5 references

Every source and publication cited across this dossier, as one numbered reference list.

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