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NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314 AND Pallister-Hall syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 13, 2012
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:
RCV000014834.26

Allele description [Variation Report for NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314]

NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314

Gene:
GLI3:GLI family zinc finger 3 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
7p14.1
Genomic location:
Preferred name:
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
HGVS:
Note:
72-nt insertion of mtDNA into exon 15 of GLI3 (NG_008434.1)
Links:
GeneReviews: NBK1465; dbVar: nssv3761571; dbVar: nsv1067831; OMIM: 165240.0011

Condition(s)

Name:
Pallister-Hall syndrome (PHS)
Synonyms:
Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
Identifiers:
MONDO: MONDO:0007804; MedGen: C0265220; Orphanet: 672; OMIM: 146510

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035089OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2003)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000054490GeneReviews
no assertion criteria provided
pathologic
(Sep 13, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

[The Pallister-Hall syndrome--a rare case and an example of the differentiated approach to the treatment of hormonally inactive hypothalamic hamartomas].

Ozerov SS, Khukhlaeva EA, Pronin IN, Trubanova NG.

Zh Vopr Neirokhir Im N N Burdenko. 1997 Jan-Mar;(1):40-2. Review. Russian. No abstract available.

PubMed [citation]
PMID:
9148633

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

Turner C, Killoran C, Thomas NS, Rosenberg M, Chuzhanova NA, Johnston J, Kemel Y, Cooper DN, Biesecker LG.

Hum Genet. 2003 Mar;112(3):303-9. Epub 2003 Jan 25.

PubMed [citation]
PMID:
12545275

Details of each submission

From OMIM, SCV000035089.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a sporadic case of Pallister-Hall syndrome (PHS; 146510), previously described by Ozerov et al. (1997), Turner et al. (2003) identified a 72-bp insertion of mtDNA into exon 14 of the GLI3 gene, creating a premature stop codon predicting a truncated protein product. The patient had a hypothalamic hamartoma demonstrated by cranial MRI without endocrine abnormalities or seizures. He had scars on his hands consistent with removal of a supernumerary ulnar digit, fusion of his metacarpals, and a bifid epiglottis. Turner et al. (2003) found heterozygosity for the insertion, which was not found in the parents. The authors performed analysis of a SNP, which indicated that the allele with the 72-bp insertion had a C at position 2993 of the GLI3 cDNA (wildtype, T), and that the mother was a T/T homozygote and the father a C/T heterozygote. Thus the mutated allele was of paternal origin. The insertion was found to be identical to a region partially overlapping 2 mitochondrial tRNA genes, MTTS2 (590085) and MTTL2 (590055).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000054490.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Mar 23, 2024