Fetal anomalies
Gene: AP4B1

AP4B1 (adaptor related protein complex 4 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000134262
EnsemblGeneIds (GRCh37): ENSG00000134262
OMIM: 607245, Gene2Phenotype
AP4B1 is in 13 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe neurodegenerative disorder with onset at birth. Congenital anomalies reported include microcephaly, contractures, thin corpus callosum, ventriculomegaly and white matter abnormalities.
Created: 2 Mar 2022, 11:20 p.m. | Last Modified: 2 Mar 2022, 11:20 p.m.

Panel Version: 0.4682

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 47, autosomal recessive, MIM# 614066

Created: 2 Mar 2022, 11:20 p.m.
Last Modified: 2 Mar 2022, 11:20 p.m.
Panel version: 0.4682

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Created: 13 Mar 2021, 7:23 a.m. | Last Modified: 5 Dec 2021, 10:17 p.m.

Panel Version: 0.946

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 47, autosomal recessive, MIM# 614066

Publications

Created: 13 Mar 2021, 7:23 a.m.
Last Modified: 5 Dec 2021, 10:17 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3497

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Spastic paraplegia 47, autosomal recessive, OMIM:614066
Hereditary spastic paraplegia 47, MONDO:0013551

OMIM

607245

Clinvar variants

Variants in AP4B1

Penetrance

None

Publications

Panels with this gene