PAFAH1B1 Chromosome 17
Platelet activating factor acetylhydrolase 1b regulatory subunit 1
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What This Gene Does
This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000007168
Associated Conditions (11)
Lissencephaly due to LIS1 mutation
Inborn genetic diseases
PAFAH1B1-related disorder
VATER association
Subcortical band heterotopia
Lissencephaly
Intellectual disability
Abnormal cerebral morphology
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia
Abnormal cortical gyration
Neurodevelopmental delay
Key Variants
RS1262666760
Conflicting classifications of pathogenicity
Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
Health Risk
RS140936904
Conflicting classifications of pathogenicity
Health Risk
RS144659773
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lissencephaly due to LIS1 mutation, Inborn genetic diseases
Health Risk
RS2069199944
Conflicting classifications of pathogenicity
Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
Health Risk
RS2069359971
Conflicting classifications of pathogenicity
Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
Health Risk
RS377583144
Conflicting classifications of pathogenicity
Lissencephaly due to LIS1 mutation, Inborn genetic diseases, PAFAH1B1-related disorder
Health Risk
RS587784254
Conflicting classifications of pathogenicity
Lissencephaly due to LIS1 mutation, Inborn genetic diseases, Lissencephaly due to LIS1 mutation
Health Risk
RS587784255
Conflicting classifications of pathogenicity
Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
Health Risk
RS587784288
Conflicting classifications of pathogenicity
Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
Health Risk
RS754775447
Conflicting classifications of pathogenicity
VATER association, VATER association
Health Risk
RS758682063
Conflicting classifications of pathogenicity
Health Risk
RS765106555
Conflicting classifications of pathogenicity
Health Risk
All Variants (168)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS879195935 | Health Risk | Likely pathogenic | — |
| RS1057520515 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS1064793990 | Health Risk | Pathogenic | — |
| RS113994198 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation, Intellectual disability |
| RS113994200 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS113994202 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Inborn genetic diseases, Lissencephaly |
| RS113994203 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS121434482 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS121434483 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS121434484 | Health Risk | Pathogenic | Subcortical band heterotopia, Subcortical band heterotopia |
| RS121434485 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS121434486 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS121434490 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS1334642659 | Health Risk | Pathogenic | Abnormal cortical gyration, Abnormal cortical gyration |
| RS1555526298 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS1555526309 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS1555526718 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS1555526733 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS1555527743 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS1567554574 | Health Risk | Pathogenic | — |
| RS1567559851 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS1567561137 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS2069103320 | Health Risk | Pathogenic | Lissencephaly, Lissencephaly |
| RS2069227856 | Health Risk | Pathogenic | — |
| RS2151659413 | Health Risk | Pathogenic | — |
| RS2151660952 | Health Risk | Pathogenic | — |
| RS2151663957 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS2151663964 | Health Risk | Pathogenic | — |
| RS2151666409 | Health Risk | Pathogenic | — |
| RS2151666445 | Health Risk | Pathogenic | — |
| RS2151667800 | Health Risk | Pathogenic | — |
| RS2151667927 | Health Risk | Pathogenic | — |
| RS2151667999 | Health Risk | Pathogenic | — |
| RS2151669999 | Health Risk | Pathogenic | — |
| RS2151673809 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS2151673826 | Health Risk | Pathogenic | — |
| RS2151674034 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS2544085840 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS2544088176 | Health Risk | Pathogenic | — |
| RS2544090147 | Health Risk | Pathogenic | — |
| RS2544102362 | Health Risk | Pathogenic | — |
| RS2544102391 | Health Risk | Pathogenic | — |
| RS2544106241 | Health Risk | Pathogenic | — |
| RS2544106929 | Health Risk | Pathogenic | — |
| RS2544121801 | Health Risk | Pathogenic | — |
| RS2544121917 | Health Risk | Pathogenic | — |
| RS369259961 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS587784235 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS587784236 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |
| RS587784237 | Health Risk | Pathogenic | Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation |