PHF21A Chromosome 11
PHD finger protein 21A
Upload your DNA to see your personal genotypes for variants in PHF21A.
What This Gene Does
The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]
Gene Info
Gene Group
PHD finger proteins
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000135365
Associated Conditions (5)
Inborn genetic diseases
PHF21A-related disorder
See cases
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
Intellectual disability
Key Variants
RS1311730265
Conflicting classifications of pathogenicity
Health Risk
RS139491575
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149898933
Conflicting classifications of pathogenicity
PHF21A-related disorder, PHF21A-related disorder
Health Risk
RS150425973
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1590864380
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS2135027632
Conflicting classifications of pathogenicity
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
Health Risk
RS2136287756
Conflicting classifications of pathogenicity
Health Risk
RS371629369
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377000937
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748724067
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751930327
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752695673
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1311730265 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139491575 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149898933 | Health Risk | Conflicting classifications of pathogenicity | PHF21A-related disorder, PHF21A-related disorder |
| RS150425973 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1590864380 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS2135027632 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2136287756 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371629369 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377000937 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748724067 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751930327 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752695673 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759521447 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Inborn genetic diseases, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1554969688 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2134991780 | Health Risk | Likely pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2136047144 | Health Risk | Likely pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2136081849 | Health Risk | Likely pathogenic | — |
| RS2495688598 | Health Risk | Likely pathogenic | — |
| RS2496660796 | Health Risk | Likely pathogenic | — |
| RS2497635596 | Health Risk | Likely pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2504765197 | Health Risk | Likely pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1591092743 | Health Risk | Pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1591102099 | Health Risk | Pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1591407093 | Health Risk | Pathogenic | — |
| RS1591407315 | Health Risk | Pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2092369866 | Health Risk | Pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Inborn genetic diseases, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2135128191 | Health Risk | Pathogenic | — |
| RS2135465689 | Health Risk | Pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2135484551 | Health Risk | Pathogenic | — |
| RS2135484845 | Health Risk | Pathogenic | — |
| RS2135936249 | Health Risk | Pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2495614521 | Health Risk | Pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2496617094 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2497897075 | Health Risk | Pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2498000107 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2498024152 | Health Risk | Pathogenic | — |
| RS2504489983 | Health Risk | Pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1554988946 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Inborn genetic diseases |
| RS1565138763 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual disability |
| RS2498652640 | Health Risk | Pathogenic/Likely pathogenic | PHF21A-related disorder, PHF21A-related disorder |
| RS761575760 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |