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Severe microcephaly

Gene: PUF60

No list

PUF60 (poly(U) binding splicing factor 60)
EnsemblGeneIds (GRCh38): ENSG00000179950
EnsemblGeneIds (GRCh37): ENSG00000179950
OMIM: 604819, Gene2Phenotype
PUF60 is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Over 15 affected individuals reported. Short stature and dev delay are consistent features. 5/12 in the largest case series had microcephaly in relation to stature (Z-scores −2.48, −4.22, −2.09, −2.99, −2.53 respectively).
Sources: Expert list
Created: 3 Sep 2020, 3:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Verheij syndrome, MIM# 615583

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Verheij syndrome, MIM# 615583
OMIM
604819
Clinvar variants
Variants in PUF60
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PUF60 was added gene: PUF60 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 28327570 Phenotypes for gene: PUF60 were set to Verheij syndrome, MIM# 615583 Review for gene: PUF60 was set to GREEN gene: PUF60 was marked as current diagnostic