NM_015107.3(PHF8):c.738dup (p.His247fs) AND Syndromic X-linked intellectual disability Siderius type

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 11, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003313713.1

Allele description [Variation Report for NM_015107.3(PHF8):c.738dup (p.His247fs)]

NM_015107.3(PHF8):c.738dup (p.His247fs)

Gene:

PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_015107.3(PHF8):c.738dup (p.His247fs)

HGVS:

NC_000023.11:g.54014424dup
NG_021309.1:g.35715dup
NM_001184896.1:c.846dup
NM_001184897.2:c.738dup
NM_001184898.2:c.738dup
NM_015107.3:c.738dupMANE SELECT
NP_001171825.1:p.His283fs
NP_001171826.1:p.His247fs
NP_001171827.1:p.His247fs
NP_055922.1:p.His247fs
NC_000023.10:g.54040857dup
NM_015107.2:c.738_739insT

Protein change:

H247fs

Links:

OMIM: 300560.0005

Molecular consequence:

NM_001184896.1:c.846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001184897.2:c.738dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001184898.2:c.738dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015107.3:c.738dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Syndromic X-linked intellectual disability Siderius type (MRXSSD)
Synonyms:: Intellectual deficit X-linked Siderius type; Siderius Hamel syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE
Identifiers:: MONDO: MONDO:0010286; MedGen: C1846055; Orphanet: 85287; OMIM: 300263

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004012793	OMIM	no assertion criteria provided	Pathogenic (Jul 11, 2023)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004012793

OMIM

no assertion criteria provided

Pathogenic
(Jul 11, 2023)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, et al.

HGG Adv. 2022 Jul 14;3(3):100102. doi: 10.1016/j.xhgg.2022.100102. Erratum in: HGG Adv. 2022 Dec 20;4(1):100168. doi: 10.1016/j.xhgg.2022.100168.

PubMed [citation]

PMID:: 35469323
PMCID:: PMC9034099

Details of each submission

From OMIM, SCV004012793.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a boy with Siderius-type X-linked syndromic intellectual developmental disorder (MRXSSD; 300263), Sobering et al. (2022) identified a 1-bp insertion (c.738_739insT, NM_015107.2) in the PHF8 gene, predicted to result in a frameshift and a premature termination codon (His247SerfsTer3). The mutation, which was found by trio exome sequencing, was inherited from the unaffected mother.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 22, 2023

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