17p13.3-PAFAH1B1 Copy Number Variation - CNVPathwayAtlas

17p13.3-PAFAH1B1 Copy Number Variation

Description

The deletion or point mutation of PAFAH1B1 (LIS1, MIM#601545) is responsible for the rare genetic disorder Miller-Dieker syndrome (MIM#247200). The most common symptom is lisencephaly causing severe intellectual disability, cardiac and facial dysmorphic features. The protein is part of the type I platelet-activating factor acetylhydrolase and involved in stabilising dynein binding to microtubules.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:531 Deletion syndrome
OMIM: 247200
Prevalence: Unknown
Definition:

A rare contiguous gene deletion syndrome of chromosome 17p13.3 characterized by classical lissencephaly, distinct facial dysmorphism, seizures and severe to profound intellectual disability. Additional congenital malformations can be part of the condition.

Phenotypic features:
Obligate
(100%)		 Very frequent
(99–80%)		 Frequent
(79–30%)		 Occasional
(29–5%)		 Very rare
(<4-1%)		 Excluded
(0%)
- - -
ORPHA:217385 Microduplication syndrome
OMIM: 613215
Prevalence: <1 / 1 000 000
Definition:

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

Phenotypic features:
Obligate
(100%)		 Very frequent
(99–80%)		 Frequent
(79–30%)		 Occasional
(29–5%)		 Very rare
(<4-1%)		 Excluded
(0%)
- - -

Molecular pathway

View on WikiPathways

Gene Information

HGNC Gene Name NCBI Ensembl UniProt
PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 5048 ENSG00000007168 P43034

Evidence